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.
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ABCB1
ATP binding cassette subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16950614 PMID:25007187
NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
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ANKRD11
ankyrin repeat domain containing 11
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 5:64,047,188...64,229,582
Ensembl chr 5:64,047,175...64,229,077
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AP3B1
adaptor related protein complex 3 subunit beta 1
ISO
RGD
PMID:12125811
RGD:1578409
NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258
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ATP6AP1
ATPase H+ transporting accessory protein 1
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:122,133,314...122,140,949
Ensembl chr X:122,133,325...122,140,447
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C5
complement C5
ISO
RGD
PMID:10188960 PMID:10516626
RGD:1600665 RGD:5130180
NCBI chr11:73,953,727...74,029,919
Ensembl chr11:73,953,727...74,029,851
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C5AR1
complement C5a receptor 1
ISO
RGD
PMID:10516626
RGD:5130180
NCBI chr 1:108,659,637...108,704,217
Ensembl chr 1:108,659,637...108,675,401
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C6H16orf92
chromosome 6 C16orf92 homolog
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 6:18,051,019...18,053,729
Ensembl chr 6:18,052,621...18,054,126
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CCNQ
cyclin Q
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:121,409,169...121,418,666
Ensembl chr X:121,409,625...121,418,395
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CFB
complement factor B
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr12:1,400,143...1,406,267
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CHD1L
chromodomain helicase DNA binding protein 1 like
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048
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CLPB
ClpB family mitochondrial disaggregase
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 PMID:28492532 PMID:28687938 PMID:34782754 More...
NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857
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CSF2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:7875148 PMID:10832225 PMID:11264156
RGD:10449510
NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
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CSF3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
RGD CTD
PMID:7524159 PMID:7529132 PMID:7543699 PMID:7688884 PMID:9740541 PMID:9774950 PMID:10654961 PMID:11712802 PMID:12085204 PMID:12884814 PMID:12926135 PMID:15585077 PMID:16761898 PMID:27737899 More...
RGD:11039039
NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
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DPYD
dihydropyrimidine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12562666
NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
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ELANE
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:9536098 PMID:10581030 PMID:11001877 PMID:11722436 PMID:17576681 PMID:20049848 PMID:21425445 PMID:23463630 PMID:25741868 PMID:28492532 PMID:30040071 PMID:32581362 PMID:34340247 More...
NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
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EPHX1
epoxide hydrolase 1
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238
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FCGR2B
Fc fragment of IgG receptor IIb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10848805
NCBI chr38:20,980,777...20,994,403
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GFI1
growth factor independent 1 transcriptional repressor
ISO
DNA:mutation:exon:
RGD
PMID:11810106 PMID:22684987
RGD:11040449 RGD:11040456
NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422
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HAX1
HCLS1 associated protein X-1
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:28492532 PMID:32581362
NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710
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HOXD13
homeobox D13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr36:19,901,184...19,903,837
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IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1884014
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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ITGAM
integrin subunit alpha M
ISO
associated with Brain Contusion
RGD
PMID:8835801
RGD:329901911
NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286
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JAGN1
jagunal homolog 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129144 PMID:25129145
NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085
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KIF11
kinesin family member 11
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr28:6,982,296...7,034,380
Ensembl chr28:6,982,146...7,033,104
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LIMS2
LIM zinc finger domain containing 2
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr19:22,932,251...22,978,437
Ensembl chr19:22,931,779...22,982,765
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MKI67
marker of proliferation Ki-67
ISO
protein:increased expression:blood, T cell
RGD
PMID:22092365
RGD:6483522
NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19391036
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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MUC16
mucin 16, cell surface associated
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868
NCBI chr20:51,790,036...51,876,801
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NUDT15
nudix hydrolase 15
ISO
MouseDO
NCBI chr22:3,416,702...3,424,607
Ensembl chr22:3,416,578...3,424,409
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NUP98
nucleoporin 98 and 96 precursor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr21:26,231,585...26,348,019
Ensembl chr21:26,220,963...26,336,020
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PKP3
plakophilin 3
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr18:25,540,073...25,547,667
Ensembl chr18:25,540,073...25,547,667
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POLR3C
RNA polymerase III subunit C
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868
NCBI chr17:58,634,299...58,646,056
Ensembl chr17:58,636,244...58,645,838
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PTAFR
platelet activating factor receptor
treatment
ISO
RGD
PMID:3011900
RGD:10043179
NCBI chr 2:72,225,386...72,256,353
Ensembl chr 2:72,225,386...72,256,352
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RNF128
ring finger protein 128
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868
NCBI chr X:80,241,285...80,356,094
Ensembl chr X:80,241,522...80,356,110
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RPS14
ribosomal protein S14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr 4:58,661,335...58,667,968
Ensembl chr 4:58,661,152...58,667,964
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SLC34A1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
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SMARCD2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28369036
NCBI chr 9:11,787,676...11,823,900
Ensembl chr 9:11,788,485...11,808,118
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STAT2
signal transducer and activator of transcription 2
susceptibility
ISO
associated with Chronic Hepatitis C;DNA:SNP:intron 5:g.4757G>T (human)
RGD
PMID:19200137
RGD:41789633
NCBI chr10:641,543...660,882
Ensembl chr10:642,718...658,546
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STAT3
signal transducer and activator of transcription 3
ISO
associated with T-cell large granular lymphocyte leukemia
RGD
PMID:22591296
RGD:6892936
NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
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TLE2
TLE family member 2, transcriptional corepressor
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868
NCBI chr20:56,138,654...56,157,625
Ensembl chr20:56,137,746...56,157,583
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TMEM63A
transmembrane protein 63A
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 7:38,936,989...38,964,349
Ensembl chr 7:38,937,041...38,964,345
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TNF
tumor necrosis factor
ISO
RGD
PMID:15986200
RGD:1580321
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TPMT
thiopurine S-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18662289
NCBI chr35:16,928,991...16,953,891
Ensembl chr35:16,929,240...16,953,229
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USP3
ubiquitin specific peptidase 3
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr30:28,073,484...28,184,121
Ensembl chr30:28,072,655...28,181,749
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VPS16
VPS16 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr24:18,401,440...18,424,605
Ensembl chr24:18,399,572...18,424,510
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XDH
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392
NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
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ZC3H3
zinc finger CCCH-type containing 3
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868
NCBI chr13:37,128,915...37,214,643
Ensembl chr13:37,130,999...37,214,997
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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:25597510 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34115842 PMID:34140661 More...
NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857
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ANAPC15
anaphase promoting complex subunit 15
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558
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ARAP1
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,468,653...25,531,644
Ensembl chr21:25,443,386...25,531,165
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ARHGEF17
Rho guanine nucleotide exchange factor 17
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,859,789...24,919,733
Ensembl chr21:24,862,295...24,919,667
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ARRB1
arrestin beta 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,261,020...23,304,448
Ensembl chr21:23,235,711...23,297,786
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ATG16L2
autophagy related 16 like 2
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,404,667...25,433,456
Ensembl chr21:25,405,694...25,419,896
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C2CD3
C2 domain containing 3 centriole elongation regulator
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,127,390...24,272,473
Ensembl chr21:24,127,598...24,272,657
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CBD108
beta-defensin 108B
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr16:53,938,211...53,944,168
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CHCHD8
coiled-coil-helix-coiled-coil-helix domain containing 8
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,379,195...24,417,941
Ensembl chr21:24,381,614...24,381,868
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CHRDL2
chordin like 2
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,670,257...23,702,788
Ensembl chr21:23,670,238...23,702,788
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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 PMID:25597511 PMID:25650066 PMID:25741868 PMID:26916670 PMID:27290639 PMID:27891836 PMID:28492532 PMID:28554332 PMID:28687938 PMID:32219827 PMID:32313153 PMID:32573439 PMID:32820519 PMID:34115842 PMID:34140661 PMID:34782754 PMID:35616898 More...
NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857
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DHCR7
7-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr18:47,257,750...47,277,436
Ensembl chr18:47,261,730...47,274,236
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DNAJB13
DnaJ heat shock protein family (Hsp40) member B13
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,314,242...24,326,605
Ensembl chr21:24,314,248...24,338,253
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FAM168A
family with sequence similarity 168 member A
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,644,700...24,832,307
Ensembl chr21:24,768,108...24,827,784
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FCHSD2
FCH and double SH3 domains 2
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,082,864...25,399,754
Ensembl chr21:25,072,161...25,397,717
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GDPD5
glycerophosphodiester phosphodiesterase domain containing 5
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,070,875...23,157,078
Ensembl chr21:23,070,964...23,156,532
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IL18BP
interleukin 18 binding protein
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:26,076,515...26,080,741
Ensembl chr21:26,076,700...26,078,612
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INPPL1
inositol polyphosphate phosphatase like 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,900,308...25,914,527
Ensembl chr21:25,900,900...25,915,577
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KCNE3
potassium voltage-gated channel subfamily E regulatory subunit 3
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,860,727...23,872,194
Ensembl chr21:23,871,648...23,871,947
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KLHL35
kelch like family member 35
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,159,703...23,170,899
Ensembl chr21:23,162,905...23,170,532
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LAMTOR1
late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,981,170...25,986,942
Ensembl chr21:25,981,254...25,996,432
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LIPT2
lipoyl(octanoyl) transferase 2
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,845,253...23,846,977
Ensembl chr21:23,845,268...23,846,537
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LOC106560171
transmembrane O-methyltransferase
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,975,547...25,981,097
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LOC119865100
small nucleolar RNA SNORD15
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
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LOC476816
folate receptor beta
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,917,476...25,923,267
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LOC609612
folate receptor alpha
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,944,350...25,951,010
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MIR139
microRNA mir-139
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,597,025...25,597,081
Ensembl chr21:25,597,024...25,597,080
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MIR326
microRNA mir-326
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,240,463...23,240,553
Ensembl chr21:23,240,463...23,240,553
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MRPL48
mitochondrial ribosomal protein L48
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,391,538...24,456,860
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NADSYN1
NAD synthetase 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514
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NEU3
neuraminidase 3
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,456,424...23,484,872
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NUMA1
nuclear mitotic apparatus protein 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549
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OR2AT2
olfactory receptor family 2 subfamily AT member 2
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,435,792...23,437,070
Ensembl chr21:23,436,132...23,437,070
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P2RY2
purinergic receptor P2Y2
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,987,568...25,009,754
Ensembl chr21:24,992,848...24,996,059
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P2RY6
pyrimidinergic receptor P2Y6
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,929,502...24,966,857
Ensembl chr21:24,929,771...24,930,757
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P4HA3
prolyl 4-hydroxylase subunit alpha 3
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642
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PAAF1
proteasomal ATPase associated factor 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,337,226...24,379,203
Ensembl chr21:24,338,333...24,379,074
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PDE2A
phosphodiesterase 2A
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,542,030...25,635,661
Ensembl chr21:25,542,268...25,635,660
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PGM2L1
phosphoglucomutase 2 like 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,918,588...23,973,607
Ensembl chr21:23,918,918...23,968,306
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PHOX2A
paired like homeobox 2A
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,895,628...25,900,338
Ensembl chr21:25,892,321...25,900,351
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PLEKHB1
pleckstrin homology domain containing B1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,592,081...24,608,097
Ensembl chr21:24,593,030...24,608,035
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POLD3
DNA polymerase delta 3, accessory subunit
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,753,918...23,805,306
Ensembl chr21:23,754,278...23,802,104
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PPME1
protein phosphatase methylesterase 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,041,074...24,127,178
Ensembl chr21:24,042,240...24,127,081
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RAB6A
RAB6A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,489,653...24,578,212
Ensembl chr21:24,492,359...24,576,524
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RELT
RELT TNF receptor
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,835,792...24,854,739
Ensembl chr21:24,836,858...24,854,023
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RNF121
ring finger protein 121
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:26,080,885...26,163,570
Ensembl chr21:26,079,692...26,163,493
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RNF169
ring finger protein 169
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,574,478...23,655,305
Ensembl chr21:23,579,370...23,655,290
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RPS3
ribosomal protein S3
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,180,515...23,187,034
Ensembl chr21:23,180,515...23,187,034
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SERPINH1
serpin family H member 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,032,761...23,041,649
Ensembl chr21:23,032,767...23,041,625
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SLCO2B1
solute carrier organic anion transporter family member 2B1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,347,593...23,393,480
Ensembl chr21:23,346,070...23,473,831
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SPCS2
signal peptidase complex subunit 2
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,485,367...23,510,249
Ensembl chr21:23,484,965...23,510,249
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STARD10
StAR related lipid transfer domain containing 10
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:25,439,189...25,466,614
Ensembl chr21:25,433,208...25,466,583
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TPBGL
trophoblast glycoprotein like
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,312,723...23,317,887
Ensembl chr21:23,314,357...23,315,535
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UCP2
uncoupling protein 2
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128
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UCP3
uncoupling protein 3
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639
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XRRA1
X-ray radiation resistance associated 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr21:23,510,403...23,573,862
Ensembl chr21:23,516,686...23,570,535
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CLPB
ClpB family mitochondrial disaggregase
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | 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 PMID:28492532 PMID:28687938 PMID:32573439 PMID:34115842 PMID:34782754 PMID:35616898 More...
NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857
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ELANE
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: Autosomal dominant severe congenital neutropenia
ClinVar
PMID:25741868
NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
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ACE
angiotensin I converting enzyme
severity
ISO
DNA:deletion:intron:IVS16+1464-1751del (human) associated with acute leukemia;DNA:insertion/deletion:intron 16:
RGD
PMID:15806540 PMID:24819208
RGD:11038917 RGD:11530041
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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GSTP1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism: : rs1695(human)
RGD
PMID:25008867
RGD:10755412
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
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ITPA
inosine triphosphatase
ISO
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human)
RGD
PMID:18685564
RGD:10766478
NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
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LOC478984
low affinity immunoglobulin gamma Fc region receptor III
treatment
ISO
associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human)
RGD
PMID:27282998
RGD:11344967
NCBI chr38:21,054,870...21,060,948
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MBL1
mannose binding lectin 1
susceptibility disease progression
ISO
associated with Neoplasms;DNA:SNP,haplotyep:promoter: associated with leukemia; associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:
RGD
PMID:20930093 PMID:24453114 PMID:24819208
RGD:11530041 RGD:11530043 RGD:11530056
NCBI chr 4:29,419,886...29,424,377
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MDM2
MDM2 proto-oncogene
susceptibility
ISO
associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human)
RGD
PMID:21706156
RGD:11073725
NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596
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TP53
tumor protein p53
susceptibility
ISO
associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human)
RGD
PMID:21706156
RGD:11073725
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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ABCA7
ATP binding cassette subfamily A member 7
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,668,371...57,684,111
Ensembl chr20:57,667,706...57,677,342
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ABHD17A
abhydrolase domain containing 17A, depalmitoylase
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,083,381...57,092,021
Ensembl chr20:57,086,800...57,092,001
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ADAMTSL5
ADAMTS like 5
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,351,242...57,357,934
Ensembl chr20:57,351,575...57,357,520
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ADAT3
adenosine deaminase tRNA specific 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,062,706...57,065,492
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AP3B1
adaptor related protein complex 3 subunit beta 1
IAGP
Neutropenia, cyclic
OMIA
PMID:47249 PMID:127610 PMID:173440 PMID:336117 PMID:347941 PMID:351627 PMID:438337 PMID:568046 PMID:686147 PMID:710550 PMID:719169 PMID:738429 PMID:738763 PMID:955040 PMID:995965 PMID:1013155 PMID:1167851 PMID:1251140 PMID:1259228 PMID:1379221 PMID:1699776 PMID:1893969 PMID:2172633 PMID:2458781 PMID:2830927 PMID:2945680 PMID:2979797 PMID:3026784 PMID:3181344 PMID:3491636 PMID:3607647 PMID:3996494 PMID:4170467 PMID:4430726 PMID:4587264 PMID:4591036 PMID:4612548 PMID:4703853 PMID:4795953 PMID:4796766 PMID:4834515 PMID:5054471 PMID:5054472 PMID:5366324 PMID:5529685 PMID:5534257 PMID:5581910 PMID:6067150 PMID:6096876 PMID:6506453 PMID:6759148 PMID:6803622 PMID:6837566 PMID:6846503 PMID:6853718 PMID:6884440 PMID:6972315 PMID:6976196 PMID:7011123 PMID:7059519 PMID:7060078 PMID:7066210 PMID:7281477 PMID:7350939 PMID:7405719 PMID:7474871 PMID:7519075 PMID:7528575 PMID:8737267 PMID:12750178 PMID:12897784 PMID:15059607 PMID:15576359 PMID:16610934 PMID:17053055 PMID:18951469 PMID:19208418 PMID:19941936 PMID:22285163 PMID:22845776 PMID:35904319 PMID:37673175 More...
NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258
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AP3D1
adaptor related protein complex 3 subunit delta 1
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830
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APC2
APC regulator of WNT signaling pathway 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,380,472...57,395,249
Ensembl chr20:57,380,460...57,395,226
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ARHGAP45
Rho GTPase activating protein 45
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,656,693...57,668,324
Ensembl chr20:57,657,154...57,787,713
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ARID3A
AT-rich interaction domain 3A
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,724,747...57,746,637
Ensembl chr20:57,722,917...57,746,622
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ATP5F1D
ATP synthase F1 subunit delta
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,547,575...57,550,110
Ensembl chr20:57,547,371...57,549,722
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ATP8B3
ATPase phospholipid transporting 8B3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,144,740...57,160,402
Ensembl chr20:57,148,281...57,160,347
G
BTBD2
BTB domain containing 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:56,999,749...57,008,283
Ensembl chr20:57,000,016...57,007,467
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C20H19orf25
chromosome 20 C19orf25 homolog
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,376,356...57,380,511
Ensembl chr20:57,377,059...57,379,453
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CBARP
CACN subunit beta associated regulatory protein
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,554,162...57,559,126
Ensembl chr20:57,554,032...57,559,612
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CFD
complement factor D
ISO
ClinVar Annotator: match by term: Cyclic hematopoiesis | ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11001877 PMID:11675333 PMID:14962902 PMID:16079102 PMID:16551967 PMID:16737875 PMID:18028488 PMID:18611981 PMID:19036076 PMID:20582973 PMID:22148006 PMID:22758217 PMID:23463630 PMID:25741868 PMID:26567890 PMID:28492532 PMID:30273710 PMID:30635825 More...
NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713
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CIRBP
cold inducible RNA binding protein
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,521,609...57,526,526
Ensembl chr20:57,519,119...57,526,435
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CNN2
calponin 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,684,959...57,691,621
Ensembl chr20:57,637,796...57,691,896
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CSNK1G2
casein kinase 1 gamma 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,015,019...57,042,269
Ensembl chr20:57,015,614...57,040,694
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DAZAP1
DAZ associated protein 1
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,411,249...57,435,852
Ensembl chr20:57,411,825...57,435,799
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EFNA2
ephrin A2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
G
ELANE
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: Cyclic hematopoiesis | ClinVar Annotator: match by term: Cyclical neutropenia
OMIM ClinVar
PMID:3124897 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 PMID:11675333 PMID:11722436 PMID:14962902 PMID:15657182 PMID:16079102 PMID:16199547 PMID:16551967 PMID:16737875 PMID:16986121 PMID:17053055 PMID:17391497 PMID:17436313 PMID:17576681 PMID:18028488 PMID:18611981 PMID:18703682 PMID:19036076 PMID:19415009 PMID:19775295 PMID:20049848 PMID:20301705 PMID:20582973 PMID:20803142 PMID:21425445 PMID:21618407 PMID:22148006 PMID:22510773 PMID:22624626 PMID:22758217 PMID:23206890 PMID:23382209 PMID:23463630 PMID:24184683 PMID:24523240 PMID:24616599 PMID:25162927 PMID:25427142 PMID:25703294 PMID:25705433 PMID:25741868 PMID:25912133 PMID:26567890 PMID:28073911 PMID:28492532 PMID:28881492 PMID:29076228 PMID:29517659 PMID:30040071 PMID:30171085 PMID:30273710 PMID:30386760 PMID:30635825 PMID:31009763 PMID:31176364 PMID:31248972 PMID:31321910 PMID:31574885 PMID:31965297 PMID:32581362 PMID:32630050 PMID:32888943 PMID:33179225 PMID:33225392 PMID:33471934 PMID:33513358 PMID:33942430 PMID:33961760 PMID:33968054 PMID:34000087 PMID:34093558 PMID:34340247 PMID:34573280 PMID:35047849 PMID:35525891 PMID:36734404 PMID:37216690 PMID:37288978 More...
NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
G
FAM174C
family with sequence similarity 174 member C
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
G
FGF22
fibroblast growth factor 22
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,899,300...57,903,064
Ensembl chr20:57,900,416...57,903,061
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FSTL3
follistatin like 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,878,623...57,884,240
Ensembl chr20:57,879,722...57,884,172
G
GAMT
guanidinoacetate N-methyltransferase
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,440,698...57,442,588
G
GPX4
glutathione peroxidase 4
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
G
GRIN3B
glutamate ionotropic receptor NMDA type subunit 3B
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,703,569...57,710,119
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HCN2
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,920,089...57,941,057
Ensembl chr20:57,920,740...57,938,374
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IZUMO4
IZUMO family member 4
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:56,933,644...56,936,171
Ensembl chr20:56,933,646...56,936,163
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KISS1R
KISS1 receptor
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,756,046...57,758,940
Ensembl chr20:57,756,197...57,758,940
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KLF16
KLF transcription factor 16
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,102,968...57,110,795
G
MBD3
methyl-CpG binding domain protein 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,296,713...57,312,988
Ensembl chr20:57,296,713...57,307,110
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MED16
mediator complex subunit 16
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,771,543...57,782,839
Ensembl chr20:57,777,827...57,782,819
G
MEX3D
mex-3 RNA binding family member D
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,317,232...57,323,854
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MIDN
midnolin
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,535,165...57,543,014
Ensembl chr20:57,536,880...57,542,977
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MISP
mitotic spindle positioning
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,839,423...57,847,013
Ensembl chr20:57,838,731...57,843,219
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MKNK2
MAPK interacting serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:56,966,656...56,978,414
Ensembl chr20:56,965,800...56,974,073
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MOB3A
MOB kinase activator 3A
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:56,940,743...56,951,906
Ensembl chr20:56,940,618...56,950,841
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NDUFS7
NADH:ubiquinone oxidoreductase core subunit S7
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825
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ONECUT3
one cut homeobox 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,161,598...57,181,840
G
PALM
paralemmin
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,847,631...57,868,790
Ensembl chr20:57,849,081...57,868,975
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PCSK4
proprotein convertase subtilisin/kexin type 4
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,370,035...57,376,207
Ensembl chr20:57,369,328...57,375,590
G
PLK5
polo like kinase 5 (inactive)
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,337,808...57,343,993
Ensembl chr20:57,337,874...57,343,945
G
PLPPR3
phospholipid phosphatase related 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,800,998...57,806,233
Ensembl chr20:57,800,740...57,806,246
G
POLR2E
RNA polymerase II, I and III subunit E
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,649,836...57,653,661
Ensembl chr20:57,649,868...57,654,199
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POLRMT
RNA polymerase mitochondrial
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,908,327...57,920,016
Ensembl chr20:57,908,351...57,920,027
G
PRSS57
serine protease 57
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,873,891...57,877,890
Ensembl chr20:57,874,770...57,877,888
G
PTBP1
polypyrimidine tract binding protein 1
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,806,450...57,818,435
Ensembl chr20:57,807,826...57,818,359
G
PWWP3A
PWWP domain containing 3A, DNA repair factor
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,452,289...57,469,207
Ensembl chr20:57,452,300...57,468,692
G
R3HDM4
R3H domain containing 4
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,761,100...57,769,656
Ensembl chr20:57,760,909...57,769,105
G
REEP6
receptor accessory protein 6
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,364,419...57,370,069
G
REXO1
RNA exonuclease 1 homolog
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,117,756...57,141,628
Ensembl chr20:57,130,460...57,140,889
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RNF126
ring finger protein 126
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,890,333...57,899,364
Ensembl chr20:57,891,413...57,898,863
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RPS15
ribosomal protein S15
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,406,544...57,407,015
Ensembl chr20:57,406,545...57,413,421
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SBNO2
strawberry notch homolog 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,592,901...57,640,047
Ensembl chr20:57,267,724...57,640,750
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SCAMP4
secretory carrier membrane protein 4
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,047,022...57,061,274
Ensembl chr20:57,048,026...57,063,245
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STK11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
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TCF3
transcription factor 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981
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TMEM259
transmembrane protein 259
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,695,004...57,703,650
Ensembl chr20:57,695,002...57,749,891
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UQCR11
ubiquinol-cytochrome c reductase, complex III subunit XI
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,289,122...57,291,334
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WDR18
WD repeat domain 18
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr20:57,712,854...57,717,988
Ensembl chr20:57,712,740...57,718,107
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ABCB1
ATP binding cassette subfamily B member 1
susceptibility
ISO
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human) associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human) Breast Neoplasms;DNA:SNP: :3435 C>T(human)
RGD
PMID:17534875 PMID:22271208 PMID:25007187
RGD:11080964 RGD:11080979 RGD:11081001
NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
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ABCC2
ATP binding cassette subfamily C member 2
susceptibility no_association
ISO
associated with neoplasm;DNA:SNP:rs12762549(human)
RGD
PMID:18294295 PMID:23188068
RGD:11080980 RGD:11080999
NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
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CSF3
colony stimulating factor 3
treatment
ISO
associated with Hepatitis C, Chronic; associated with Leukemia, Hairy Cell;
RGD
PMID:2461131 PMID:17660602
RGD:11039035 RGD:11039036
NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
ISO
RGD
PMID:27400856
RGD:14928329
NCBI chr12:2,305,307...2,307,711
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DPYD
dihydropyrimidine dehydrogenase
treatment no_association
ISO
associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human) associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human) associated with Neoplasms;DNA:missense mutations: :multiple DNA:splice-site mutation, missense mutations: :multiple associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)
RGD
PMID:11156223 PMID:12209976 PMID:19473056 PMID:23942539
RGD:11098817 RGD:11251736 RGD:11251737 RGD:11251738
NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
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ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
associated with Colorectal Neoplasms;DNA:SNP
RGD
PMID:23543295
RGD:11340199
NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
treatment
ISO
associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:21047201
RGD:11098572
NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
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ERCC6
ERCC excision repair 6, chromatin remodeling factor
treatment
ISO
associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human)
RGD
PMID:28924235
RGD:153323316
NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
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GSTP1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:SNP:cds:p.I105V (rs1695) (human)
RGD
PMID:23812950
RGD:10755330
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
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IL1A
interleukin 1 alpha
treatment
ISO
associated with Carcinoma, Non-Small-Cell Lung
RGD
PMID:7666093
RGD:11051963
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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LOC478984
low affinity immunoglobulin gamma Fc region receptor III
ISO
associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human) associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human) associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)
RGD
PMID:19933905 PMID:20730791 PMID:21883784
RGD:11344964 RGD:11344973 RGD:11352256
NCBI chr38:21,054,870...21,060,948
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MDM2
MDM2 proto-oncogene
susceptibility
ISO
associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human)
RGD
PMID:24732641
RGD:11073715
NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596
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POLD1
DNA polymerase delta 1, catalytic subunit
treatment
ISO
associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human)
RGD
PMID:28924235
RGD:153323316
NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385
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SLCO1B2
solute carrier organic anion transporter family member 1B2
no_association susceptibility
ISO
associated with neoplasm;DNA:SNP: rs11045585(human) associated with neoplasm;DNA:SNP:rs11045585(human)
RGD
PMID:18294295 PMID:23188068
RGD:11080980 RGD:11080999
NCBI chr27:26,411,008...26,496,174
Ensembl chr27:26,411,010...26,470,989
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SOD2
superoxide dismutase 2
susceptibility
ISO
associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human)
RGD
PMID:20309628
RGD:11035278
NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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TP53
tumor protein p53
susceptibility
ISO
associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human)
RGD
PMID:24732641
RGD:11073715
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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G6PC3
glucose-6-phosphatase catalytic subunit 3
ISO
ClinVar Annotator: match by term: Dursun syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:19,299,619...19,304,038
Ensembl chr 9:19,260,240...19,303,995
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CCL2
C-C motif chemokine ligand 2
ISO
associated with Hematologic Diseases;protein:increased expression:plasma (human)
RGD
PMID:23369970
RGD:11528559
NCBI chr 9:39,008,187...39,009,932
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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 PMID:29751004 More...
NCBI chr 3:69,305,731...69,348,183
Ensembl chr 3:69,305,731...69,348,177
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RBSN
rabenosyn, RAB effector
ISO
ClinVar Annotator: match by term: MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES
ClinVar OMIM
PMID:29784638
NCBI chr20:5,157,758...5,197,740
Ensembl chr20:5,157,923...5,197,822
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GFI1
growth factor independent 1 transcriptional repressor
ISO
ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults
OMIM ClinVar
PMID:11807637 PMID:12778173 PMID:25741868 PMID:28492532
NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422
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TERT
telomerase reverse transcriptase
ISO
RGD
PMID:22133767
RGD:11038657
NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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USB1
U6 snRNA biogenesis phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Poikiloderma with neutropenia | ClinVar Annotator: match by term: USB1-related condition
OMIM ClinVar
PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 PMID:20618321 PMID:20817924 PMID:21271650 PMID:21872685 PMID:21967010 PMID:23190533 PMID:25044170 PMID:25741868 PMID:27247962 PMID:27612988 PMID:28353165 PMID:28492532 PMID:29072891 PMID:29770900 PMID:29982244 PMID:32897901 PMID:34179048 More...
NCBI chr 2:58,535,173...58,549,877
Ensembl chr 2:58,536,142...58,549,778
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CSF3R
colony stimulating factor 3 receptor
ISO
RGD
PMID:9639496
RGD:10450484
NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882
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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 PMID:31321910 PMID:32581362 More...
RGD:10450485
NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882
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ELANE
elastase, neutrophil expressed
ISO
DNA:mutation:intron:c.597+1G>A (human) mRNA:decreased expression:myeloid CD33+ cell: DNA:mutations: :
RGD
PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599
RGD:10450514 RGD:10450519 RGD:10450525 RGD:1598891
NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
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FCHO1
FCH and mu domain containing endocytic adaptor 1
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
PMID:30822429 PMID:32098969
NCBI chr20:45,106,982...45,131,173
Ensembl chr20:45,106,983...45,134,325
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G6PC3
glucose-6-phosphatase catalytic subunit 3
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
NCBI chr 9:19,299,619...19,304,038
Ensembl chr 9:19,260,240...19,303,995
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GFI1
growth factor independent 1 transcriptional repressor
ISO
OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022
MouseDO
NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422
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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 PMID:25741868 PMID:28492532 PMID:31589614 PMID:32054657 PMID:34426522 PMID:37193639 More...
NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710
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JAGN1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
PMID:25129144 PMID:25741868 PMID:25851723 PMID:27980538 PMID:28492532 PMID:30443436 PMID:31031743 PMID:32419428 PMID:32888943 PMID:33206996 PMID:33718801 More...
NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085
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TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
ISO
ClinVar Annotator: match by term: Congenital neutropenia
ClinVar
PMID:24753205
NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317
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CFD
complement factor D
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
ClinVar
PMID:11001877 PMID:11675333 PMID:14962902 PMID:16079102 PMID:16551967 PMID:16737875 PMID:18028488 PMID:18611981 PMID:19036076 PMID:20582973 PMID:22148006 PMID:22758217 PMID:23463630 PMID:25741868 PMID:26567890 PMID:28492532 PMID:30273710 PMID:30635825 More...
NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713
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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:3124897 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 PMID:11675333 PMID:11722436 PMID:14962902 PMID:15657182 PMID:16079102 PMID:16551967 PMID:16737875 PMID:17053055 PMID:17391497 PMID:17576681 PMID:18028488 PMID:18611981 PMID:19036076 PMID:19775295 PMID:20049848 PMID:20301705 PMID:20582973 PMID:21425445 PMID:22148006 PMID:22510773 PMID:22758217 PMID:23206890 PMID:23382209 PMID:23463630 PMID:24523240 PMID:24616599 PMID:25427142 PMID:25703294 PMID:25741868 PMID:26567890 PMID:28073911 PMID:28492532 PMID:30040071 PMID:30273710 PMID:30386760 PMID:30635825 PMID:31176364 PMID:31248972 PMID:31321910 PMID:31839986 PMID:32581362 PMID:32888943 PMID:33318085 PMID:33471934 PMID:33942430 PMID:33968054 PMID:34093558 PMID:34340247 PMID:34573280 PMID:35525891 PMID:37288978 More...
NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
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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:22231430 PMID:24753205 PMID:25741868 PMID:26264438 PMID:28492532
NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317
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VPS13B
vacuolar protein sorting 13 homolog B
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
ClinVar
PMID:16648375 PMID:25741868 PMID:28492532
NCBI chr13:1,101,226...1,834,933
Ensembl chr13:1,101,610...1,871,225
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GALR2
galanin receptor 2
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive
ClinVar
PMID:32273475
NCBI chr 9:4,559,710...4,562,474
Ensembl chr 9:4,560,067...4,562,463
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SRP68
signal recognition particle 68
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive
OMIM ClinVar
PMID:32273475
NCBI chr 9:4,567,613...4,604,230
Ensembl chr 9:4,567,628...4,604,229
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SEC61A1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 11, autosomal dominant
OMIM ClinVar
PMID:32325141
NCBI chr20:2,070,739...2,087,790
Ensembl chr20:2,070,248...2,087,789
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BRDT
bromodomain testis associated
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:56,918,939...56,977,355
Ensembl chr 6:56,919,195...56,965,638
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BTBD8
BTB domain containing 8
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:56,756,682...56,849,849
Ensembl chr 6:56,698,320...56,900,173
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C6H1orf146
chromosome 6 C1orf146 homolog
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:56,665,170...56,723,591
Ensembl chr 6:56,679,039...56,723,652
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CLPB
ClpB family mitochondrial disaggregase
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857
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DIPK1A
divergent protein kinase domain 1A
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741
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EPHX4
epoxide hydrolase 4
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:56,863,779...56,900,312
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EVI5
ecotropic viral integration site 5
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:56,255,753...56,450,631
Ensembl chr 6:56,256,305...56,484,422
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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 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422
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GLMN
glomulin, FKBP associated protein
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:56,631,186...56,678,397
Ensembl chr 6:56,644,456...56,678,399
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LOC119872403
small nucleolar RNA SNORD21
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
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RPAP2
RNA polymerase II associated protein 2
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:56,564,310...56,644,382
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RPL5
ribosomal protein L5
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956
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ADAM15
ADAM metallopeptidase domain 15
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,432,067...42,443,463
Ensembl chr 7:42,428,113...42,443,429
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ADAMTSL4
ADAMTS like 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,736,628...59,747,689
Ensembl chr17:59,736,534...59,746,980
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ADAR
adenosine deaminase RNA specific
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
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ANP32E
acidic nuclear phosphoprotein 32 family member E
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,460,864...59,482,467
Ensembl chr17:59,462,766...59,477,936
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ANXA9
annexin A9
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,084,296...60,098,631
Ensembl chr17:60,084,241...60,094,136
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APH1A
aph-1 homolog A, gamma-secretase subunit
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,510,805...59,514,431
Ensembl chr17:59,502,523...59,514,403
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AQP10
aquaporin 10
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 7:42,961,041...42,964,053
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ARHGEF2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,835,322...41,850,488
Ensembl chr 7:41,812,353...41,850,488
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ARNT
aryl hydrocarbon receptor nuclear translocator
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
Ensembl chr17:59,941,353...60,010,867 Ensembl chr17:59,941,353...60,010,867
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ASH1L
ASH1 like histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,046,262...42,227,737
Ensembl chr 7:42,046,569...42,225,456
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ATP8B2
ATPase phospholipid transporting 8B2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 7:42,940,219...42,959,964
Ensembl chr 7:42,941,753...42,964,026
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BCAN
brevican
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178
G
BGLAP
bone gamma-carboxyglutamate protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
G
BNIPL
BCL2 interacting protein like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,126,341...60,135,209
Ensembl chr17:60,126,745...60,134,605
G
C17H1orf54
chromosome 17 C1orf54 homolog
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,514,661...59,522,685
Ensembl chr17:59,516,519...59,523,562
G
C17H1orf56
chromosome 17 C1orf56 homolog
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,135,343...60,137,489
Ensembl chr17:60,135,463...60,136,527
G
C2CD4D
C2 calcium dependent domain containing 4D
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
G
C7H1orf43
chromosome 7 C1orf43 homolog
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 7:43,015,099...43,033,989
Ensembl chr 7:43,015,268...43,033,974
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CA14
carbonic anhydrase 14
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,504,181...59,510,497
Ensembl chr17:59,504,483...59,510,127
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CCT3
chaperonin containing TCP1 subunit 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,566,274...41,583,903
Ensembl chr 7:41,566,292...41,584,863
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CDC42SE1
CDC42 small effector 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,138,497...60,146,344
Ensembl chr17:60,140,632...60,155,099
G
CELF3
CUGBP Elav-like family member 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,733,148...60,747,553
Ensembl chr17:60,735,628...60,746,615
G
CERS2
ceramide synthase 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,069,723...60,073,622
Ensembl chr17:60,070,585...60,081,502
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CGN
cingulin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,553,423...60,578,804
Ensembl chr17:60,559,116...60,578,705
G
CHRNB2
cholinergic receptor nicotinic beta 2 subunit
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 7:42,786,505...42,797,976
Ensembl chr 7:42,789,600...42,795,722
G
CHTOP
chromatin target of PRMT1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,418,902...43,428,012
Ensembl chr 7:43,419,707...43,427,856
G
CIART
circadian associated repressor of transcription
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,524,715...59,529,535
Ensembl chr17:59,525,987...59,529,402
G
CKS1B
CDC28 protein kinase regulatory subunit 1B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,496,912...42,499,907
Ensembl chr 7:42,496,912...42,499,875
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CLK2
CDC like kinase 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,284,869...42,294,434
Ensembl chr 7:42,284,699...42,294,394
G
CRABP2
cellular retinoic acid binding protein 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,277,580...41,282,158
Ensembl chr 7:41,277,644...41,281,833
G
CREB3L4
cAMP responsive element binding protein 3 like 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,161,814...43,166,149
Ensembl chr 7:43,161,816...43,165,641
G
CRNN
cornulin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,380,706...61,386,294
Ensembl chr17:61,380,706...61,386,504
G
CRTC2
CREB regulated transcription coactivator 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,175,349...43,184,242
Ensembl chr 7:43,175,349...43,184,244
G
CTSK
cathepsin K
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507
G
CTSS
cathepsin S
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849
G
DAP3
death associated protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,011,485...42,045,900
Ensembl chr 7:42,011,506...42,026,894
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DCST1
DC-STAMP domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,443,787...42,457,361
Ensembl chr 7:42,428,113...42,457,062
G
DCST2
DC-STAMP domain containing 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,457,294...42,466,549
Ensembl chr 7:42,457,366...42,466,374
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DENND4B
DENN domain containing 4B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,185,637...43,198,309
Ensembl chr 7:43,185,550...43,198,577
G
DPM3
dolichyl-phosphate mannosyltransferase subunit 3, regulatory
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,368,898...42,369,686
G
ECM1
extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,696,125...59,701,990
Ensembl chr17:59,696,477...59,701,744
G
EFNA1
ephrin A1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,373,197...42,381,161
Ensembl chr 7:42,373,639...42,378,946
G
EFNA3
ephrin A3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,409,215...42,417,701
Ensembl chr 7:42,410,119...42,417,599
G
EFNA4
ephrin A4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,427,539...42,431,788
Ensembl chr 7:42,428,113...42,443,429
G
ENSA
endosulfine alpha
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,800,822...59,807,884
Ensembl chr17:59,801,306...59,807,869
G
ENTREP3
endosomal transmembrane epsin interactor 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,299,568...42,305,177
Ensembl chr 7:42,300,009...42,372,615
G
FDPS
farnesyl diphosphate synthase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
G
FLAD1
flavin adenine dinucleotide synthetase 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,489,045...42,494,524
Ensembl chr 7:42,489,061...42,494,471
G
FLG
filaggrin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,217,915...61,233,068
G
GABPB2
GA binding protein transcription factor subunit beta 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,154,346...60,183,839
Ensembl chr17:60,155,407...60,183,716
G
GATAD2B
GATA zinc finger domain containing 2B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,201,307...43,295,868
Ensembl chr 7:43,254,305...43,294,211
G
GBA1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
G
GLMP
glycosylated lysosomal membrane protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,588,024...41,590,857
Ensembl chr 7:41,588,075...41,590,555
G
GOLPH3L
golgi phosphoprotein 3 like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,819,152...59,859,650
Ensembl chr17:59,819,157...59,859,602
G
GPATCH4
G-patch domain containing 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,359,986...41,367,085
Ensembl chr 7:41,360,575...41,366,665
G
HAPLN2
hyaluronan and proteoglycan link protein 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,340,493...41,346,607
Ensembl chr 7:41,341,883...41,344,117
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 PMID:17576681 PMID:18055975 PMID:18330843 PMID:18337561 PMID:18611981 PMID:19036076 PMID:19118303 PMID:19499579 PMID:20065084 PMID:20177699 PMID:20182745 PMID:20220065 PMID:21108402 PMID:21344642 PMID:22102707 PMID:22624626 PMID:24482108 PMID:25326635 PMID:25741868 PMID:28102861 PMID:28454995 PMID:28492532 PMID:31321910 PMID:31589614 PMID:31980526 PMID:32005694 PMID:32054657 PMID:32581362 PMID:33381479 PMID:33560082 PMID:34134972 PMID:34426522 PMID:34826056 PMID:37193639 More...
NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710
G
HCN3
hyperpolarization activated cyclic nucleotide gated potassium channel 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,272,756...42,282,770
Ensembl chr 7:42,273,571...42,282,595
G
HDGF
heparin binding growth factor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,244,740...41,247,919
Ensembl chr 7:41,238,175...41,247,921
G
HORMAD1
HORMA domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,860,527...59,883,031
Ensembl chr17:59,860,934...59,882,980
G
IL6R
interleukin 6 receptor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
G
ILF2
interleukin enhancer binding factor 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,403,136...43,410,378
Ensembl chr 7:43,403,222...43,410,375
G
INSRR
insulin receptor related receptor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,161,036...41,176,739
Ensembl chr 7:41,161,333...41,175,940
G
INTS3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,325,522...43,361,669
Ensembl chr 7:43,326,315...43,361,362
G
IQGAP3
IQ motif containing GTPase activating protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,384,539...41,420,529
Ensembl chr 7:41,382,994...41,419,742
G
ISG20L2
interferon stimulated exonuclease gene 20 like 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,258,140...41,263,635
Ensembl chr 7:41,258,750...41,263,003
G
IVL
involucrin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,714,470...61,716,961
G
JTB
jumping translocation breakpoint
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,159,164...43,161,907
G
KCNN3
potassium calcium-activated channel subfamily N member 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,562,500...42,704,862
Ensembl chr 7:42,572,432...42,698,047
G
KHDC4
KH domain containing 4, pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,875,837...41,893,819
Ensembl chr 7:41,875,652...41,894,572
G
KPLCE
KPRP N-terminal and LCE C-terminal like protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,541,989...61,543,947
Ensembl chr17:61,541,477...61,543,761
G
KPRP
keratinocyte proline rich protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,544,787...61,575,610
Ensembl chr17:61,573,127...61,574,902
G
KRTCAP2
keratinocyte associated protein 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,354,793...42,357,596
Ensembl chr 7:42,354,040...42,357,600
G
LAMTOR2
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,760,632...41,764,926
Ensembl chr 7:41,760,638...41,763,299
G
LCE6A
late cornified envelope 6A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,653,363...61,654,514
G
LELP1
late cornified envelope like proline rich 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,927,443...61,929,285
G
LENEP
lens epithelial protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,487,902...42,488,901
Ensembl chr 7:42,488,363...42,488,548
G
LINGO4
leucine rich repeat and Ig domain containing 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,814,948...60,820,517
Ensembl chr17:60,815,499...60,817,448
G
LMNA
lamin A/C
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
G
LOC100685649
cornifin-A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,794,303...61,796,053
G
LOC102156046
protein S100-A15A-like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,503,226...43,537,485
G
LOC119863999
hornerin-like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
G
LOC483211
filaggrin-2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,311,558...61,323,059
G
LOC490422
GON-4-like protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,927,667...42,000,649
G
LORICRIN
loricrin cornified envelope precursor protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,994,297...61,995,591
G
LYSMD1
LysM domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,222,628...60,230,967
Ensembl chr17:60,223,347...60,230,821
G
MCL1
MCL1 apoptosis regulator, BCL2 family member
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,759,605...59,763,111
Ensembl chr17:59,759,605...59,763,111
G
MEF2D
myocyte enhancer factor 2D
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,455,771...41,473,807
Ensembl chr 7:41,458,514...41,470,197
G
METTL25B
methyltransferase like 25B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,251,838...41,258,130
Ensembl chr 7:41,245,628...41,257,937
G
MEX3A
mex-3 RNA binding family member A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,742,777...41,749,730
Ensembl chr 7:41,742,785...41,747,628
G
MINDY1
MINDY lysine 48 deubiquitinase 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,092,245...60,103,797
Ensembl chr17:60,094,702...60,103,307
G
MLLT11
MLLT11 transcription factor 7 cofactor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,142,411...60,153,650
Ensembl chr17:60,152,378...60,152,650
G
MRPL24
mitochondrial ribosomal protein L24
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,248,851...41,251,878
Ensembl chr 7:41,249,992...41,251,879
G
MRPL9
mitochondrial ribosomal protein L9
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,782,975...60,787,313
G
MRPS21
mitochondrial ribosomal protein S21
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,534,732...59,543,449
Ensembl chr17:59,534,859...59,543,027
G
MSTO1
misato mitochondrial distribution and morphology regulator 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,000,141...42,003,941
Ensembl chr 7:42,000,092...42,003,891
G
MTMR11
myotubularin related protein 11
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,214,794...59,223,953
Ensembl chr17:59,214,986...59,222,972
G
MTX1
metaxin 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,322,755...42,327,918
Ensembl chr 7:42,322,762...42,328,701
G
MUC1
mucin 1, cell surface associated
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
G
NAXE
NAD(P)HX epimerase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,367,248...41,369,733
Ensembl chr 7:41,367,275...41,369,862
G
NES
nestin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736
G
NPR1
natriuretic peptide receptor 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,382,246...43,396,464
Ensembl chr 7:43,283,418...43,396,027
G
NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
G
NUP210L
nucleoporin 210 like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 7:43,068,259...43,149,202
Ensembl chr 7:43,068,341...43,161,853
G
OAZ3
ornithine decarboxylase antizyme 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,789,541...60,792,954
Ensembl chr17:60,786,963...60,792,954
G
OTUD7B
OTU deubiquitinase 7B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,225,640...59,280,875
Ensembl chr17:59,229,362...59,280,934
G
PAQR6
progestin and adipoQ receptor family member 6
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,625,759...41,629,995
Ensembl chr 7:41,628,458...41,629,383
G
PBXIP1
PBX homeobox interacting protein 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,514,306...42,524,056
Ensembl chr 7:42,514,423...42,523,585
G
PI4KB
phosphatidylinositol 4-kinase beta
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,359,545...60,386,093
Ensembl chr17:60,360,236...60,384,778
G
PIP5K1A
phosphatidylinositol-4-phosphate 5-kinase type 1 alpha
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,257,017...60,295,866
Ensembl chr17:60,257,332...60,295,866
G
PKLR
pyruvate kinase L/R
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755
G
PLEKHO1
pleckstrin homology domain containing O1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,402,758...59,411,906
Ensembl chr17:59,402,834...59,411,788
G
PMVK
phosphomevalonate kinase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
G
POGZ
pogo transposable element derived with ZNF domain
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,464,609...60,511,735
Ensembl chr17:60,465,230...60,511,934
G
PRCC
proline rich mitotic checkpoint control factor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,200,398...41,225,494
Ensembl chr 7:41,200,411...41,226,186
G
PRPF3
pre-mRNA processing factor 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,552,227...59,577,027
Ensembl chr17:59,552,340...59,577,009
G
PRR9
proline rich 9
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,938,089...61,939,857
Ensembl chr17:61,938,737...61,939,063
G
PRUNE1
prune exopolyphosphatase 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,104,724...60,125,899
Ensembl chr17:60,104,958...60,124,900
G
PSMB4
proteasome 20S subunit beta 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,461,208...60,463,604
Ensembl chr17:60,461,240...60,463,594
G
PSMD4
proteasome 26S subunit ubiquitin receptor, non-ATPase 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,306,134...60,313,610
Ensembl chr17:60,306,229...60,313,610
G
PYGO2
pygopus family PHD finger 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,509,760...42,513,744
Ensembl chr 7:42,509,968...42,512,091
G
RAB13
RAB13, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,152,903...43,156,720
Ensembl chr 7:43,153,002...43,156,720
G
RAB25
RAB25, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,752,975...41,758,954
Ensembl chr 7:41,752,975...41,758,906
G
RFX5
regulatory factor X5
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,393,773...60,400,150
Ensembl chr17:60,395,321...60,400,009
G
RHBG
Rh family B glycoprotein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,532,266...41,548,523
Ensembl chr 7:41,538,214...41,566,057
G
RIIAD1
regulatory subunit of type II PKA R-subunit domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,753,380...60,759,713
Ensembl chr17:60,753,092...60,759,733
G
RIT1
Ras like without CAAX 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173
G
RORC
RAR related orphan receptor C
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,821,498...60,842,485
Ensembl chr17:60,821,981...60,842,453
G
RPRD2
regulation of nuclear pre-mRNA domain containing 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,587,157...59,676,885
Ensembl chr17:59,587,157...59,672,964
G
RPS27
ribosomal protein S27
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 7:43,149,465...43,150,658
Ensembl chr 7:43,067,161...43,309,293
G
RPTN
repetin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,133,204...61,136,828
Ensembl chr17:61,133,204...61,136,844
G
RUSC1
RUN and SH3 domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,232,791...42,240,862
Ensembl chr 7:42,233,156...42,241,345
G
S100A1
S100 calcium binding protein A1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,428,819...43,432,637
Ensembl chr 7:43,428,820...43,433,459
G
S100A10
S100 calcium binding protein A10
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,984,138...60,994,915
G
S100A11
S100 calcium binding protein A11
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,020,136...61,050,513
G
S100A12
S100 calcium binding protein A12
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,554,078...43,555,470
Ensembl chr 7:43,554,146...43,555,475
G
S100A13
S100 calcium binding protein A13
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,428,538...43,442,052
Ensembl chr 7:43,433,253...43,447,513
G
S100A14
S100 calcium binding protein A14
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,443,073...43,446,416
Ensembl chr 7:43,444,396...43,446,287
G
S100A16
S100 calcium binding protein A16
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,447,422...43,452,625
Ensembl chr 7:43,447,494...43,452,130
G
S100A2
S100 calcium binding protein A2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,473,788...43,482,073
Ensembl chr 7:43,471,753...43,482,105
G
S100A3
S100 calcium binding protein A3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,490,128...43,492,383
G
S100A4
S100 calcium binding protein A4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,494,007...43,496,021
G
S100A5
S100 calcium binding protein A5
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,497,738...43,501,010
Ensembl chr 7:43,491,466...43,500,936
G
S100A6
S100 calcium binding protein A6
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,501,430...43,503,100
Ensembl chr 7:43,501,989...43,541,604
G
S100A8
S100 calcium binding protein A8
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,540,667...43,541,604
Ensembl chr 7:43,501,989...43,541,604
G
S100A9
S100 calcium binding protein A9
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,566,993...43,570,074
G
SCAMP3
secretory carrier membrane protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,294,764...42,299,097
G
SCNM1
sodium channel modifier 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,231,034...60,233,349
Ensembl chr17:60,231,104...60,233,337
G
SELENBP1
selenium binding protein 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,410,727...60,418,770
Ensembl chr17:60,410,734...60,418,704
G
SEMA4A
semaphorin 4A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,670,814...41,695,349
Ensembl chr 7:41,672,120...41,692,460
G
SEMA6C
semaphorin 6C
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,195,798...60,208,630
Ensembl chr17:60,195,785...60,208,630
G
SETDB1
SET domain bifurcated histone lysine methyltransferase 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551
G
SF3B4
splicing factor 3b subunit 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991
G
SH2D2A
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,186,721...41,195,987
Ensembl chr 7:41,186,252...41,195,122
G
SHC1
SHC adaptor protein 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276
G
SHE
Src homology 2 domain containing E
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 7:42,853,116...42,869,293
Ensembl chr 7:42,853,083...42,867,858
G
SLC25A44
solute carrier family 25 member 44
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,630,868...41,665,894
Ensembl chr 7:41,630,098...41,665,791
G
SLC27A3
solute carrier family 27 member 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,321,059...43,325,766
Ensembl chr 7:43,321,130...43,325,089
G
SLC39A1
solute carrier family 39 member 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,171,219...43,174,876
Ensembl chr 7:43,171,287...43,174,036
G
SLC50A1
solute carrier family 50 member 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,370,031...42,372,390
Ensembl chr 7:42,370,299...42,372,322
G
SMCP
sperm mitochondria associated cysteine rich protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,694,605...61,699,122
Ensembl chr17:61,694,605...61,699,225
G
SMG5
SMG5 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,598,111...41,624,575
Ensembl chr 7:41,598,104...41,624,575
G
SNAPIN
SNAP associated protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,410,554...43,411,929
Ensembl chr 7:43,410,998...43,412,323
G
SNX27
sorting nexin 27
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,653,719...60,727,928
Ensembl chr17:60,653,732...60,724,253
G
SSR2
signal sequence receptor subunit 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,790,289...41,801,438
Ensembl chr 7:41,795,565...41,801,421
G
SYT11
synaptotagmin 11
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,910,102...41,929,020
Ensembl chr 7:41,912,920...41,929,617
G
TARS2
threonyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,681,889...59,695,747
Ensembl chr17:59,681,936...59,695,746
G
TCHH
trichohyalin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,095,132...61,102,663
G
TCHHL1
trichohyalin like 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:61,077,129...61,081,240
Ensembl chr17:61,077,944...61,081,233
G
TDRKH
tudor and KH domain containing
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,794,937...60,807,852
Ensembl chr17:60,795,813...60,805,449
G
THBS3
thrombospondin 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,327,899...42,338,177
Ensembl chr 7:42,328,592...42,338,171
G
THEM4
thioesterase superfamily member 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,889,245...60,924,848
Ensembl chr17:60,891,660...60,925,091
G
THEM5
thioesterase superfamily member 5
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,857,348...60,865,789
Ensembl chr17:60,857,350...60,865,579
G
TMEM79
transmembrane protein 79
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,591,332...41,597,993
Ensembl chr 7:41,591,848...41,595,816
G
TMOD4
tropomodulin 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,234,061...60,238,950
Ensembl chr17:60,234,096...60,238,864
G
TNFAIP8L2
TNF alpha induced protein 8 like 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,219,239...60,222,818
Ensembl chr17:60,221,592...60,222,146
G
TPM3
tropomyosin 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296
G
TRIM46
tripartite motif containing 46
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,345,506...42,354,667
Ensembl chr 7:42,345,523...42,354,557
G
TTC24
tetratricopeptide repeat domain 24
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,372,960...41,381,514
G
TUFT1
tuftelin 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,580,032...60,628,422
Ensembl chr17:60,580,082...60,627,174
G
UBAP2L
ubiquitin associated protein 2 like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 7:42,973,598...43,015,007
Ensembl chr 7:42,974,092...43,010,848
G
UBE2Q1
ubiquitin conjugating enzyme E2 Q1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 7:42,806,185...42,813,586
Ensembl chr 7:42,806,185...42,814,747
G
UBQLN4
ubiquilin 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,764,209...41,778,457
Ensembl chr 7:41,764,253...41,777,002
G
VPS45
vacuolar protein sorting 45 homolog
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:59,327,781...59,402,172
Ensembl chr17:59,327,806...59,397,811
G
VPS72
vacuolar protein sorting 72 homolog
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,239,299...60,252,323
Ensembl chr17:60,239,395...60,252,280
G
ZBTB7B
zinc finger and BTB domain containing 7B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,468,376...42,482,219
Ensembl chr 7:42,468,247...42,483,436
G
ZNF687
zinc finger protein 687
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr17:60,350,753...60,359,542
Ensembl chr17:60,353,847...60,359,619
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 PMID:19775295 PMID:20220065 PMID:20616219 PMID:20717171 PMID:20799326 PMID:21285905 PMID:21385794 PMID:22050868 PMID:22469094 PMID:23171239 PMID:23180359 PMID:23298686 PMID:23441086 PMID:23454784 PMID:23758768 PMID:24033266 PMID:24105461 PMID:24549407 PMID:24750412 PMID:25284454 PMID:25326635 PMID:25391451 PMID:25491320 PMID:25492228 PMID:25741868 PMID:27571123 PMID:27577878 PMID:28492532 PMID:29163546 PMID:31019026 PMID:31157858 PMID:31321910 PMID:31564432 PMID:32623377 PMID:33259599 PMID:35525891 More...
NCBI chr 9:19,299,619...19,304,038
Ensembl chr 9:19,260,240...19,303,995
G
ADAM15
ADAM metallopeptidase domain 15
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,432,067...42,443,463
Ensembl chr 7:42,428,113...42,443,429
G
ADAMTSL4
ADAMTS like 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,736,628...59,747,689
Ensembl chr17:59,736,534...59,746,980
G
ADAR
adenosine deaminase RNA specific
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
G
ANP32E
acidic nuclear phosphoprotein 32 family member E
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,460,864...59,482,467
Ensembl chr17:59,462,766...59,477,936
G
ANXA9
annexin A9
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,084,296...60,098,631
Ensembl chr17:60,084,241...60,094,136
G
APH1A
aph-1 homolog A, gamma-secretase subunit
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,510,805...59,514,431
Ensembl chr17:59,502,523...59,514,403
G
AQP10
aquaporin 10
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,961,041...42,964,053
G
ARHGEF2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,835,322...41,850,488
Ensembl chr 7:41,812,353...41,850,488
G
ARNT
aryl hydrocarbon receptor nuclear translocator
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
Ensembl chr17:59,941,353...60,010,867 Ensembl chr17:59,941,353...60,010,867
G
ASH1L
ASH1 like histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,046,262...42,227,737
Ensembl chr 7:42,046,569...42,225,456
G
ATP8B2
ATPase phospholipid transporting 8B2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,940,219...42,959,964
Ensembl chr 7:42,941,753...42,964,026
G
BCAN
brevican
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178
G
BGLAP
bone gamma-carboxyglutamate protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
G
BNIPL
BCL2 interacting protein like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,126,341...60,135,209
Ensembl chr17:60,126,745...60,134,605
G
C17H1orf54
chromosome 17 C1orf54 homolog
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,514,661...59,522,685
Ensembl chr17:59,516,519...59,523,562
G
C17H1orf56
chromosome 17 C1orf56 homolog
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,135,343...60,137,489
Ensembl chr17:60,135,463...60,136,527
G
C2CD4D
C2 calcium dependent domain containing 4D
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
G
C7H1orf43
chromosome 7 C1orf43 homolog
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,015,099...43,033,989
Ensembl chr 7:43,015,268...43,033,974
G
CA14
carbonic anhydrase 14
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,504,181...59,510,497
Ensembl chr17:59,504,483...59,510,127
G
CCT3
chaperonin containing TCP1 subunit 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,566,274...41,583,903
Ensembl chr 7:41,566,292...41,584,863
G
CDC42SE1
CDC42 small effector 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,138,497...60,146,344
Ensembl chr17:60,140,632...60,155,099
G
CELF3
CUGBP Elav-like family member 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,733,148...60,747,553
Ensembl chr17:60,735,628...60,746,615
G
CERS2
ceramide synthase 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,069,723...60,073,622
Ensembl chr17:60,070,585...60,081,502
G
CGN
cingulin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,553,423...60,578,804
Ensembl chr17:60,559,116...60,578,705
G
CHRNB2
cholinergic receptor nicotinic beta 2 subunit
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,786,505...42,797,976
Ensembl chr 7:42,789,600...42,795,722
G
CHTOP
chromatin target of PRMT1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,418,902...43,428,012
Ensembl chr 7:43,419,707...43,427,856
G
CIART
circadian associated repressor of transcription
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,524,715...59,529,535
Ensembl chr17:59,525,987...59,529,402
G
CKS1B
CDC28 protein kinase regulatory subunit 1B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,496,912...42,499,907
Ensembl chr 7:42,496,912...42,499,875
G
CLK2
CDC like kinase 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,284,869...42,294,434
Ensembl chr 7:42,284,699...42,294,394
G
CRABP2
cellular retinoic acid binding protein 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,277,580...41,282,158
Ensembl chr 7:41,277,644...41,281,833
G
CREB3L4
cAMP responsive element binding protein 3 like 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,161,814...43,166,149
Ensembl chr 7:43,161,816...43,165,641
G
CRNN
cornulin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,380,706...61,386,294
Ensembl chr17:61,380,706...61,386,504
G
CRTC2
CREB regulated transcription coactivator 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,175,349...43,184,242
Ensembl chr 7:43,175,349...43,184,244
G
CTSK
cathepsin K
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507
G
CTSS
cathepsin S
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849
G
DAP3
death associated protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,011,485...42,045,900
Ensembl chr 7:42,011,506...42,026,894
G
DCST1
DC-STAMP domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,443,787...42,457,361
Ensembl chr 7:42,428,113...42,457,062
G
DCST2
DC-STAMP domain containing 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,457,294...42,466,549
Ensembl chr 7:42,457,366...42,466,374
G
DENND4B
DENN domain containing 4B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,185,637...43,198,309
Ensembl chr 7:43,185,550...43,198,577
G
DPM3
dolichyl-phosphate mannosyltransferase subunit 3, regulatory
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,368,898...42,369,686
G
ECM1
extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,696,125...59,701,990
Ensembl chr17:59,696,477...59,701,744
G
EFNA1
ephrin A1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,373,197...42,381,161
Ensembl chr 7:42,373,639...42,378,946
G
EFNA3
ephrin A3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,409,215...42,417,701
Ensembl chr 7:42,410,119...42,417,599
G
EFNA4
ephrin A4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,427,539...42,431,788
Ensembl chr 7:42,428,113...42,443,429
G
ENSA
endosulfine alpha
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,800,822...59,807,884
Ensembl chr17:59,801,306...59,807,869
G
ENTREP3
endosomal transmembrane epsin interactor 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,299,568...42,305,177
Ensembl chr 7:42,300,009...42,372,615
G
FDPS
farnesyl diphosphate synthase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
G
FLAD1
flavin adenine dinucleotide synthetase 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,489,045...42,494,524
Ensembl chr 7:42,489,061...42,494,471
G
FLG
filaggrin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,217,915...61,233,068
G
GABPB2
GA binding protein transcription factor subunit beta 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,154,346...60,183,839
Ensembl chr17:60,155,407...60,183,716
G
GATAD2B
GATA zinc finger domain containing 2B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,201,307...43,295,868
Ensembl chr 7:43,254,305...43,294,211
G
GBA1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
G
GLMP
glycosylated lysosomal membrane protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,588,024...41,590,857
Ensembl chr 7:41,588,075...41,590,555
G
GOLPH3L
golgi phosphoprotein 3 like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,819,152...59,859,650
Ensembl chr17:59,819,157...59,859,602
G
GPATCH4
G-patch domain containing 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,359,986...41,367,085
Ensembl chr 7:41,360,575...41,366,665
G
HAPLN2
hyaluronan and proteoglycan link protein 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,340,493...41,346,607
Ensembl chr 7:41,341,883...41,344,117
G
HAX1
HCLS1 associated protein X-1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710
G
HCN3
hyperpolarization activated cyclic nucleotide gated potassium channel 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,272,756...42,282,770
Ensembl chr 7:42,273,571...42,282,595
G
HDGF
heparin binding growth factor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,244,740...41,247,919
Ensembl chr 7:41,238,175...41,247,921
G
HORMAD1
HORMA domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,860,527...59,883,031
Ensembl chr17:59,860,934...59,882,980
G
IL6R
interleukin 6 receptor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
G
ILF2
interleukin enhancer binding factor 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,403,136...43,410,378
Ensembl chr 7:43,403,222...43,410,375
G
INSRR
insulin receptor related receptor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,161,036...41,176,739
Ensembl chr 7:41,161,333...41,175,940
G
INTS3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,325,522...43,361,669
Ensembl chr 7:43,326,315...43,361,362
G
IQGAP3
IQ motif containing GTPase activating protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,384,539...41,420,529
Ensembl chr 7:41,382,994...41,419,742
G
ISG20L2
interferon stimulated exonuclease gene 20 like 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,258,140...41,263,635
Ensembl chr 7:41,258,750...41,263,003
G
IVL
involucrin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,714,470...61,716,961
G
JTB
jumping translocation breakpoint
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,159,164...43,161,907
G
KCNN3
potassium calcium-activated channel subfamily N member 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,562,500...42,704,862
Ensembl chr 7:42,572,432...42,698,047
G
KHDC4
KH domain containing 4, pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,875,837...41,893,819
Ensembl chr 7:41,875,652...41,894,572
G
KPLCE
KPRP N-terminal and LCE C-terminal like protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,541,989...61,543,947
Ensembl chr17:61,541,477...61,543,761
G
KPRP
keratinocyte proline rich protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,544,787...61,575,610
Ensembl chr17:61,573,127...61,574,902
G
KRTCAP2
keratinocyte associated protein 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,354,793...42,357,596
Ensembl chr 7:42,354,040...42,357,600
G
LAMTOR2
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,760,632...41,764,926
Ensembl chr 7:41,760,638...41,763,299
G
LCE6A
late cornified envelope 6A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,653,363...61,654,514
G
LELP1
late cornified envelope like proline rich 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,927,443...61,929,285
G
LENEP
lens epithelial protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,487,902...42,488,901
Ensembl chr 7:42,488,363...42,488,548
G
LINGO4
leucine rich repeat and Ig domain containing 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,814,948...60,820,517
Ensembl chr17:60,815,499...60,817,448
G
LMNA
lamin A/C
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
G
LOC100685649
cornifin-A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,794,303...61,796,053
G
LOC102156046
protein S100-A15A-like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,503,226...43,537,485
G
LOC119863999
hornerin-like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
G
LOC483211
filaggrin-2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,311,558...61,323,059
G
LOC490422
GON-4-like protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,927,667...42,000,649
G
LORICRIN
loricrin cornified envelope precursor protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,994,297...61,995,591
G
LYSMD1
LysM domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,222,628...60,230,967
Ensembl chr17:60,223,347...60,230,821
G
MCL1
MCL1 apoptosis regulator, BCL2 family member
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,759,605...59,763,111
Ensembl chr17:59,759,605...59,763,111
G
MEF2D
myocyte enhancer factor 2D
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,455,771...41,473,807
Ensembl chr 7:41,458,514...41,470,197
G
METTL25B
methyltransferase like 25B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,251,838...41,258,130
Ensembl chr 7:41,245,628...41,257,937
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MEX3A
mex-3 RNA binding family member A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,742,777...41,749,730
Ensembl chr 7:41,742,785...41,747,628
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MINDY1
MINDY lysine 48 deubiquitinase 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,092,245...60,103,797
Ensembl chr17:60,094,702...60,103,307
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MLLT11
MLLT11 transcription factor 7 cofactor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,142,411...60,153,650
Ensembl chr17:60,152,378...60,152,650
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MRPL24
mitochondrial ribosomal protein L24
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,248,851...41,251,878
Ensembl chr 7:41,249,992...41,251,879
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MRPL9
mitochondrial ribosomal protein L9
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,782,975...60,787,313
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MRPS21
mitochondrial ribosomal protein S21
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,534,732...59,543,449
Ensembl chr17:59,534,859...59,543,027
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MSTO1
misato mitochondrial distribution and morphology regulator 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,000,141...42,003,941
Ensembl chr 7:42,000,092...42,003,891
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MTMR11
myotubularin related protein 11
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,214,794...59,223,953
Ensembl chr17:59,214,986...59,222,972
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MTX1
metaxin 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,322,755...42,327,918
Ensembl chr 7:42,322,762...42,328,701
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MUC1
mucin 1, cell surface associated
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
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NAXE
NAD(P)HX epimerase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,367,248...41,369,733
Ensembl chr 7:41,367,275...41,369,862
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NES
nestin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736
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NPR1
natriuretic peptide receptor 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,382,246...43,396,464
Ensembl chr 7:43,283,418...43,396,027
G
NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
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NUP210L
nucleoporin 210 like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,068,259...43,149,202
Ensembl chr 7:43,068,341...43,161,853
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OAZ3
ornithine decarboxylase antizyme 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,789,541...60,792,954
Ensembl chr17:60,786,963...60,792,954
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OTUD7B
OTU deubiquitinase 7B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,225,640...59,280,875
Ensembl chr17:59,229,362...59,280,934
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PAQR6
progestin and adipoQ receptor family member 6
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,625,759...41,629,995
Ensembl chr 7:41,628,458...41,629,383
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PBXIP1
PBX homeobox interacting protein 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,514,306...42,524,056
Ensembl chr 7:42,514,423...42,523,585
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PI4KB
phosphatidylinositol 4-kinase beta
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,359,545...60,386,093
Ensembl chr17:60,360,236...60,384,778
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PIP5K1A
phosphatidylinositol-4-phosphate 5-kinase type 1 alpha
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,257,017...60,295,866
Ensembl chr17:60,257,332...60,295,866
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PKLR
pyruvate kinase L/R
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755
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PLEKHO1
pleckstrin homology domain containing O1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,402,758...59,411,906
Ensembl chr17:59,402,834...59,411,788
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PMVK
phosphomevalonate kinase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
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POGZ
pogo transposable element derived with ZNF domain
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,464,609...60,511,735
Ensembl chr17:60,465,230...60,511,934
G
PRCC
proline rich mitotic checkpoint control factor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,200,398...41,225,494
Ensembl chr 7:41,200,411...41,226,186
G
PRPF3
pre-mRNA processing factor 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,552,227...59,577,027
Ensembl chr17:59,552,340...59,577,009
G
PRR9
proline rich 9
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,938,089...61,939,857
Ensembl chr17:61,938,737...61,939,063
G
PRUNE1
prune exopolyphosphatase 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,104,724...60,125,899
Ensembl chr17:60,104,958...60,124,900
G
PSMB4
proteasome 20S subunit beta 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,461,208...60,463,604
Ensembl chr17:60,461,240...60,463,594
G
PSMD4
proteasome 26S subunit ubiquitin receptor, non-ATPase 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,306,134...60,313,610
Ensembl chr17:60,306,229...60,313,610
G
PYGO2
pygopus family PHD finger 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,509,760...42,513,744
Ensembl chr 7:42,509,968...42,512,091
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RAB13
RAB13, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,152,903...43,156,720
Ensembl chr 7:43,153,002...43,156,720
G
RAB25
RAB25, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,752,975...41,758,954
Ensembl chr 7:41,752,975...41,758,906
G
RFX5
regulatory factor X5
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,393,773...60,400,150
Ensembl chr17:60,395,321...60,400,009
G
RHBG
Rh family B glycoprotein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,532,266...41,548,523
Ensembl chr 7:41,538,214...41,566,057
G
RIIAD1
regulatory subunit of type II PKA R-subunit domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,753,380...60,759,713
Ensembl chr17:60,753,092...60,759,733
G
RIT1
Ras like without CAAX 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173
G
RORC
RAR related orphan receptor C
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,821,498...60,842,485
Ensembl chr17:60,821,981...60,842,453
G
RPRD2
regulation of nuclear pre-mRNA domain containing 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,587,157...59,676,885
Ensembl chr17:59,587,157...59,672,964
G
RPS27
ribosomal protein S27
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,149,465...43,150,658
Ensembl chr 7:43,067,161...43,309,293
G
RPTN
repetin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,133,204...61,136,828
Ensembl chr17:61,133,204...61,136,844
G
RUSC1
RUN and SH3 domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,232,791...42,240,862
Ensembl chr 7:42,233,156...42,241,345
G
S100A1
S100 calcium binding protein A1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,428,819...43,432,637
Ensembl chr 7:43,428,820...43,433,459
G
S100A10
S100 calcium binding protein A10
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,984,138...60,994,915
G
S100A11
S100 calcium binding protein A11
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,020,136...61,050,513
G
S100A12
S100 calcium binding protein A12
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,554,078...43,555,470
Ensembl chr 7:43,554,146...43,555,475
G
S100A13
S100 calcium binding protein A13
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,428,538...43,442,052
Ensembl chr 7:43,433,253...43,447,513
G
S100A14
S100 calcium binding protein A14
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,443,073...43,446,416
Ensembl chr 7:43,444,396...43,446,287
G
S100A16
S100 calcium binding protein A16
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,447,422...43,452,625
Ensembl chr 7:43,447,494...43,452,130
G
S100A2
S100 calcium binding protein A2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,473,788...43,482,073
Ensembl chr 7:43,471,753...43,482,105
G
S100A3
S100 calcium binding protein A3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,490,128...43,492,383
G
S100A4
S100 calcium binding protein A4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,494,007...43,496,021
G
S100A5
S100 calcium binding protein A5
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,497,738...43,501,010
Ensembl chr 7:43,491,466...43,500,936
G
S100A6
S100 calcium binding protein A6
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,501,430...43,503,100
Ensembl chr 7:43,501,989...43,541,604
G
S100A8
S100 calcium binding protein A8
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,540,667...43,541,604
Ensembl chr 7:43,501,989...43,541,604
G
S100A9
S100 calcium binding protein A9
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,566,993...43,570,074
G
SCAMP3
secretory carrier membrane protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,294,764...42,299,097
G
SCNM1
sodium channel modifier 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,231,034...60,233,349
Ensembl chr17:60,231,104...60,233,337
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SELENBP1
selenium binding protein 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,410,727...60,418,770
Ensembl chr17:60,410,734...60,418,704
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SEMA4A
semaphorin 4A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,670,814...41,695,349
Ensembl chr 7:41,672,120...41,692,460
G
SEMA6C
semaphorin 6C
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,195,798...60,208,630
Ensembl chr17:60,195,785...60,208,630
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SETDB1
SET domain bifurcated histone lysine methyltransferase 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551
G
SF3B4
splicing factor 3b subunit 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991
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SH2D2A
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,186,721...41,195,987
Ensembl chr 7:41,186,252...41,195,122
G
SHC1
SHC adaptor protein 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276
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SHE
Src homology 2 domain containing E
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,853,116...42,869,293
Ensembl chr 7:42,853,083...42,867,858
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SLC25A44
solute carrier family 25 member 44
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,630,868...41,665,894
Ensembl chr 7:41,630,098...41,665,791
G
SLC27A3
solute carrier family 27 member 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,321,059...43,325,766
Ensembl chr 7:43,321,130...43,325,089
G
SLC39A1
solute carrier family 39 member 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,171,219...43,174,876
Ensembl chr 7:43,171,287...43,174,036
G
SLC50A1
solute carrier family 50 member 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,370,031...42,372,390
Ensembl chr 7:42,370,299...42,372,322
G
SMCP
sperm mitochondria associated cysteine rich protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,694,605...61,699,122
Ensembl chr17:61,694,605...61,699,225
G
SMG5
SMG5 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,598,111...41,624,575
Ensembl chr 7:41,598,104...41,624,575
G
SNAPIN
SNAP associated protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,410,554...43,411,929
Ensembl chr 7:43,410,998...43,412,323
G
SNX27
sorting nexin 27
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,653,719...60,727,928
Ensembl chr17:60,653,732...60,724,253
G
SSR2
signal sequence receptor subunit 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,790,289...41,801,438
Ensembl chr 7:41,795,565...41,801,421
G
SYT11
synaptotagmin 11
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,910,102...41,929,020
Ensembl chr 7:41,912,920...41,929,617
G
TARS2
threonyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:59,681,889...59,695,747
Ensembl chr17:59,681,936...59,695,746
G
TCHH
trichohyalin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,095,132...61,102,663
G
TCHHL1
trichohyalin like 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:61,077,129...61,081,240
Ensembl chr17:61,077,944...61,081,233
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TDRKH
tudor and KH domain containing
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,794,937...60,807,852
Ensembl chr17:60,795,813...60,805,449
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THBS3
thrombospondin 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,327,899...42,338,177
Ensembl chr 7:42,328,592...42,338,171
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THEM4
thioesterase superfamily member 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,889,245...60,924,848
Ensembl chr17:60,891,660...60,925,091
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THEM5
thioesterase superfamily member 5
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,857,348...60,865,789
Ensembl chr17:60,857,350...60,865,579
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TMEM79
transmembrane protein 79
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,591,332...41,597,993
Ensembl chr 7:41,591,848...41,595,816
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TMOD4
tropomodulin 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,234,061...60,238,950
Ensembl chr17:60,234,096...60,238,864
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TNFAIP8L2
TNF alpha induced protein 8 like 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,219,239...60,222,818
Ensembl chr17:60,221,592...60,222,146
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TPM3
tropomyosin 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296
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TRIM46
tripartite motif containing 46
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,345,506...42,354,667
Ensembl chr 7:42,345,523...42,354,557
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TTC24
tetratricopeptide repeat domain 24
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,372,960...41,381,514
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TUFT1
tuftelin 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,580,032...60,628,422
Ensembl chr17:60,580,082...60,627,174
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UBAP2L
ubiquitin associated protein 2 like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,973,598...43,015,007
Ensembl chr 7:42,974,092...43,010,848
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UBE2Q1
ubiquitin conjugating enzyme E2 Q1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,806,185...42,813,586
Ensembl chr 7:42,806,185...42,814,747
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UBQLN4
ubiquilin 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:41,764,209...41,778,457
Ensembl chr 7:41,764,253...41,777,002
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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 PMID:25741868 PMID:26358756 PMID:28492532 PMID:30294941 PMID:32037586 More...
NCBI chr17:59,327,781...59,402,172
Ensembl chr17:59,327,806...59,397,811
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VPS72
vacuolar protein sorting 72 homolog
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,239,299...60,252,323
Ensembl chr17:60,239,395...60,252,280
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ZBTB7B
zinc finger and BTB domain containing 7B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 7:42,468,376...42,482,219
Ensembl chr 7:42,468,247...42,483,436
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ZNF687
zinc finger protein 687
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr17:60,350,753...60,359,542
Ensembl chr17:60,353,847...60,359,619
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BRK1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258
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CIDEC
cell death inducing DFFA like effector c
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774
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CRELD1
cysteine rich with EGF like domains 1
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr20:8,333,911...8,342,429
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EMC3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr20:8,297,263...8,316,405
Ensembl chr20:8,297,274...8,315,426
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FANCD2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
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FANCD2OS
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193
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IL17RC
interleukin 17 receptor C
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr20:8,342,622...8,355,996
Ensembl chr20:8,334,345...8,355,387
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IL17RE
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr20:8,356,150...8,376,175
Ensembl chr20:8,356,728...8,367,658
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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 PMID:27980538 PMID:28492532 PMID:30443436 PMID:31031743 PMID:32419428 PMID:32888943 PMID:33206996 PMID:33718801 More...
NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085
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PRRT3
proline rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr20:8,325,232...8,333,155
Ensembl chr20:8,328,943...8,332,954
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VHL
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
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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 PMID:24033266 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24753537 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26324699 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28652245 PMID:28762112 PMID:30028820 PMID:30348809 PMID:30891028 PMID:30967555 PMID:31309983 PMID:31321910 PMID:31345219 PMID:31589614 PMID:31697825 PMID:31911633 PMID:32499645 PMID:32581362 PMID:32888494 PMID:32966608 PMID:33108454 PMID:33510405 PMID:34778134 PMID:35178734 More...
NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882
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GATA6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant
ClinVar
PMID:25741868
NCBI chr 7:65,932,114...65,962,574
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SRP54
signal recognition particle 54
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant | ClinVar Annotator: match by term: SRP54-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977
NCBI chr 8:13,800,275...13,837,799
Ensembl chr 8:13,677,760...13,837,722
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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 chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857
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CXCR4
C-X-C motif chemokine receptor 4
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:34573280 PMID:35947323 PMID:36089616 More...
NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740
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DARS1
aspartyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr19:38,690,170...38,751,360
Ensembl chr19:38,668,527...38,751,310
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LCT
lactase
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr19:38,571,539...38,620,567
Ensembl chr19:38,572,058...38,620,567
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MCM6
minichromosome maintenance complex component 6
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr19:38,627,154...38,660,312
Ensembl chr19:38,627,183...38,660,280
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MIR128-1
microRNA mir-128-1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr19:38,435,956...38,436,011
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R3HDM1
R3H domain containing 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr19:38,302,731...38,501,678
Ensembl chr19:38,356,065...38,500,689
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RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr19:37,861,844...38,006,433
Ensembl chr19:37,861,804...37,963,501
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UBXN4
UBX domain protein 4
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr19:38,519,778...38,568,760
Ensembl chr19:38,519,773...38,568,254
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ZRANB3
zinc finger RANBP2-type containing 3
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr19:38,003,273...38,302,598
Ensembl chr19:37,957,421...38,301,888
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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
OMIM ClinVar
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:35947323 PMID:36089616 More...
NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740
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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:27863252 PMID:28492532 PMID:32888493 PMID:32888494 PMID:34594039 More...
NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
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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:16199547 PMID:16783379 PMID:17148589 PMID:17209061 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 PMID:24056718 PMID:24196768 PMID:24453067 PMID:24766296 PMID:24952648 PMID:25615715 PMID:25741868 PMID:27353457 PMID:28492532 PMID:29146883 PMID:31606922 PMID:32681702 PMID:33611093 PMID:37858167 More...
NCBI chr X:41,991,321...41,998,319
Ensembl chr X:41,971,582...41,998,303
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AKAP4
A-kinase anchoring protein 4
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,935,831...42,946,248
Ensembl chr X:42,935,815...42,946,149
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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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,180,082...41,191,579
Ensembl chr X:41,180,250...41,191,310
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BMP15
bone morphogenetic protein 15
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:43,765,126...43,771,277
Ensembl chr X:43,764,777...43,771,287
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CACNA1F
calcium voltage-gated channel subunit alpha1 F
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,302,971...42,327,787
Ensembl chr X:42,303,158...42,326,774
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CCDC120
coiled-coil domain containing 120
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,206,553...42,217,607
Ensembl chr X:42,210,804...42,216,993
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CCDC22
coiled-coil domain containing 22
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,329,320...42,343,270
Ensembl chr X:42,328,755...42,343,270
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CCNB3
cyclin B3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,951,030...43,041,616
Ensembl chr X:42,949,558...43,012,122
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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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:40,810,107...40,822,130
Ensembl chr X:40,810,500...40,842,700
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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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,245,868...41,252,194
Ensembl chr X:41,245,905...41,251,623
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CLCN5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,705,789...42,860,701
Ensembl chr X:42,704,627...42,853,812
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DGKK
diacylglycerol kinase kappa
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:43,041,721...43,229,431
Ensembl chr X:43,044,242...43,230,590
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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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,774,857...41,779,474
Ensembl chr X:41,762,692...41,779,476
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ELANE
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:24033266
NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
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ELK1
ETS transcription factor ELK1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,256,205...41,270,656
Ensembl chr X:41,257,482...41,270,776
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ERAS
ES cell expressed Ras
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,024,867...42,029,649
Ensembl chr X:42,028,711...42,029,412
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FOXP3
forkhead box P3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,725,101...41,734,533
Ensembl chr X:41,725,130...41,734,378
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GATA1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:41,991,321...41,998,319
Ensembl chr X:41,971,582...41,998,303
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GLOD5
glyoxalase domain containing 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:41,967,674...41,979,241
Ensembl chr X:41,967,812...41,979,243
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GPKOW
G-patch domain and KOW motifs
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,248,121...42,266,747
Ensembl chr X:42,248,611...42,257,286
G
GRIPAP1
GRIP1 associated protein 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,121,646...42,145,330
Ensembl chr X:42,121,301...42,145,218
G
HDAC6
histone deacetylase 6
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,004,268...42,024,726
Ensembl chr X:42,004,591...42,024,427
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:40,545,474...40,682,593
Ensembl chr X:40,521,569...40,680,536
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KCND1
potassium voltage-gated channel subfamily D member 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,111,817...42,119,939
Ensembl chr X:42,111,837...42,118,375
G
LOC612524
putative protein SSX6
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,676,082...41,687,062
G
LOC612555
MAGI family member, X-linked
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,267,054...42,269,303
Ensembl chr X:42,266,715...42,269,300
G
MIR502
microRNA mir-502
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,785,601...42,785,659
Ensembl chr X:42,785,587...42,785,666
G
MIR532
microRNA mir-532
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,774,680...42,774,738
Ensembl chr X:42,774,680...42,774,738
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:40,744,408...40,746,831
Ensembl chr X:40,744,408...40,746,837
G
NUDT11
nudix hydrolase 11
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:43,916,315...43,923,410
G
OTUD5
OTU deubiquitinase 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,079,396...42,109,129
Ensembl chr X:42,081,561...42,108,612
G
PCSK1N
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,030,708...42,036,363
Ensembl chr X:41,962,524...42,036,586
G
PIM2
Pim-2 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,072,495...42,077,741
Ensembl chr X:42,073,457...42,077,543
G
PLP2
proteolipid protein 2
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr 7:66,830,421...66,861,046
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,763,126...41,773,892
Ensembl chr X:41,762,692...41,779,476
G
PPP1R3F
protein phosphatase 1 regulatory subunit 3F
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,362,335...42,378,480
Ensembl chr X:42,362,370...42,378,012
G
PQBP1
polyglutamine binding protein 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,056,660...42,060,508
Ensembl chr X:42,056,708...42,121,818
G
PRAF2
PRA1 domain family member 2
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,218,038...42,221,075
Ensembl chr X:42,218,046...42,226,422
G
PRICKLE3
prickle planar cell polarity protein 3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,276,316...42,285,428
Ensembl chr X:42,275,900...42,285,321
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:40,746,959...40,776,764
Ensembl chr X:40,747,178...40,776,742
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,806,072...41,809,803
Ensembl chr X:41,806,176...41,809,481
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:40,697,292...40,715,491
Ensembl chr X:40,698,768...40,715,490
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:40,472,525...40,525,726
Ensembl chr X:40,472,596...40,524,883
G
SHROOM4
shroom family member 4
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:43,366,921...43,639,525
Ensembl chr X:43,369,472...43,639,302
G
SLC35A2
solute carrier family 35 member A2
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,060,568...42,071,330
Ensembl chr X:42,052,781...42,071,012
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,709,441...41,718,702
Ensembl chr X:41,709,467...41,717,080
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:40,240,169...40,389,167
Ensembl chr X:40,245,654...40,389,423
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,590,329...41,612,133
Ensembl chr X:41,353,440...41,593,082
G
SUV39H1
SUV39H1 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:41,894,623...41,907,854
Ensembl chr X:41,893,045...41,906,403
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,191,571...41,241,557
Ensembl chr X:41,191,571...41,241,640
G
SYP
synaptophysin
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,288,071...42,301,802
Ensembl chr X:42,288,148...42,299,487
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,782,774...41,799,083
Ensembl chr X:41,782,671...41,798,828
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:42,181,639...42,192,709
Ensembl chr X:42,183,037...42,193,892
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:42,052,592...42,056,601
Ensembl chr X:42,052,781...42,071,012
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:40,784,240...40,807,072
Ensembl chr X:40,783,809...40,807,069
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:40,826,648...40,842,700
Ensembl chr X:40,810,500...40,842,700
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:42,645,534...42,648,801
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,271,908...41,280,433
Ensembl chr X:41,271,908...41,280,340
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 PMID:8069912 PMID:8528198 PMID:8528199 PMID:8530058 PMID:8595430 PMID:8666397 PMID:8682510 PMID:8743175 PMID:8757562 PMID:8757563 PMID:8931701 PMID:9126958 PMID:9326235 PMID:9476131 PMID:9536098 PMID:9683546 PMID:10202051 PMID:10447259 PMID:10449748 PMID:10575547 PMID:10653325 PMID:10691337 PMID:10698340 PMID:10737997 PMID:10790228 PMID:10909851 PMID:11167787 PMID:11242115 PMID:11298372 PMID:11442475 PMID:11745360 PMID:11793485 PMID:11877312 PMID:12199801 PMID:12727931 PMID:12969986 PMID:14504083 PMID:14612970 PMID:15284122 PMID:15469902 PMID:15497008 PMID:16091449 PMID:16199547 PMID:16511828 PMID:16638962 PMID:16804117 PMID:17213309 PMID:17250667 PMID:17400488 PMID:17576681 PMID:17703096 PMID:18162713 PMID:19006568 PMID:19308710 PMID:19328743 PMID:19817875 PMID:19863535 PMID:20173115 PMID:20232122 PMID:20301357 PMID:20513746 PMID:20546529 PMID:20959042 PMID:21185603 PMID:21710275 PMID:21771083 PMID:22038941 PMID:22229731 PMID:22426750 PMID:22523910 PMID:22679904 PMID:23023736 PMID:23033889 PMID:23160469 PMID:23527602 PMID:23689198 PMID:23807894 PMID:24210885 PMID:24402308 PMID:24728327 PMID:25091438 PMID:25332606 PMID:25476427 PMID:25741868 PMID:25792466 PMID:25862925 PMID:25931402 PMID:26261240 PMID:26277674 PMID:26368308 PMID:26502776 PMID:27264129 PMID:27566838 PMID:28492532 PMID:28600779 PMID:28623282 PMID:28641574 PMID:28748566 PMID:28901403 PMID:28930861 PMID:28931895 PMID:28956125 PMID:29078804 PMID:29896746 PMID:29991546 PMID:30349881 PMID:30549999 PMID:30697212 PMID:30894704 PMID:30981783 PMID:31064749 PMID:31352750 PMID:31354712 PMID:31750346 PMID:31965297 PMID:32097281 PMID:32812413 PMID:32935436 PMID:33225392 PMID:34098853 PMID:34355501 PMID:34390440 PMID:35389161 PMID:35404999 PMID:35729272 PMID:35874699 PMID:37647632 More...
NCBI chr X:41,882,240...41,890,053
Ensembl chr X:41,882,875...41,890,058
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,818,916...41,825,815
Ensembl chr X:41,818,950...41,825,811
G
WDR45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:42,221,261...42,237,535
Ensembl chr X:42,218,046...42,226,422
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:40,952,543...41,005,828
Ensembl chr X:40,952,636...41,005,133
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,557,362...41,584,417
Ensembl chr X:41,558,053...41,652,020
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,031,507...41,072,759
Ensembl chr X:41,032,742...41,071,949
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,640,010...41,652,522
Ensembl chr X:41,558,053...41,652,020
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 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:41,353,241...41,460,082
Ensembl chr X:41,353,440...41,593,082
G
DBR1
debranching RNA lariats 1
susceptibility
ISO
ClinVar Annotator: match by term: Xerosis and growth failure with immune and pulmonary dysfunction syndrome
ClinVar OMIM
PMID:25741868 PMID:37656279
NCBI chr23:34,375,691...34,388,317
Ensembl chr23:34,376,228...34,388,263
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
15753
disease of anatomical entity
15374
hematopoietic system disease
3688
leukocyte disease
1282
leukopenia
516
agranulocytosis
477
neutropenia
474
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
55
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia
0
Drug-induced Neutropenia +
19
Febrile Neutropenia +
8
Lazy Leukocyte Syndrome
1
Lethal Congenital Neutropenia with Eosinophilia
0
Lichtenstein Syndrome
0
MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND
1
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
61
poikiloderma with neutropenia
1
severe congenital neutropenia +
288
transient neonatal neutropenia +
0
Path 2
disease
15753
disease of anatomical entity
15374
Hemic and Lymphatic Diseases
4181
hematopoietic system disease
3688
leukocyte disease
1282
leukopenia
516
agranulocytosis
477
neutropenia
474
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
55
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia
0
Drug-induced Neutropenia +
19
Febrile Neutropenia +
8
Lazy Leukocyte Syndrome
1
Lethal Congenital Neutropenia with Eosinophilia
0
Lichtenstein Syndrome
0
MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND
1
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
61
poikiloderma with neutropenia
1
severe congenital neutropenia +
288
transient neonatal neutropenia +
0