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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:agranulocytosis
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Accession:DOID:12987 term browser browse the term
Definition:A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. (DO)
Synonyms:exact_synonym: Agranulocytoses;   Granulocytopenia;   Granulocytopenias;   granulocytopenic disorder;   granulopenia
 primary_id: MESH:D000380
 xref: NCI:C2863
For additional species annotation, visit the Alliance of Genome Resources.



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agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 PMID:11732872 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15999287 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:SNP: :6672G>C (human) RGD PMID:20868635 RGD:11041752 NCBI chr12:2,305,307...2,307,711 JBrowse link
G IL1B interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G NQO2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism
associated with schizophrenia;DNA:SNPs:exons, intron:multiple
CTD
RGD
PMID:14617031 RGD:11073696 NCBI chr35:3,294,776...3,315,438
Ensembl chr35:3,294,850...3,312,836
JBrowse link
3-methylglutaconic aciduria type 7a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857
JBrowse link
3-methylglutaconic aciduria type 7b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558
JBrowse link
G ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,468,653...25,531,644
Ensembl chr21:25,443,386...25,531,165
JBrowse link
G ARHGEF17 Rho guanine nucleotide exchange factor 17 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,859,789...24,919,733
Ensembl chr21:24,862,295...24,919,667
JBrowse link
G ARRB1 arrestin beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,261,020...23,304,448
Ensembl chr21:23,235,711...23,297,786
JBrowse link
G ATG16L2 autophagy related 16 like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,404,667...25,433,456
Ensembl chr21:25,405,694...25,419,896
JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,127,390...24,272,473
Ensembl chr21:24,127,598...24,272,657
JBrowse link
G CBD108 beta-defensin 108B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr16:53,938,211...53,944,168 JBrowse link
G CHCHD8 coiled-coil-helix-coiled-coil-helix domain containing 8 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,379,195...24,417,941
Ensembl chr21:24,381,614...24,381,868
JBrowse link
G CHRDL2 chordin like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,670,257...23,702,788
Ensembl chr21:23,670,238...23,702,788
JBrowse link
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857
JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr18:47,257,750...47,277,436
Ensembl chr18:47,261,730...47,274,236
JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,314,242...24,326,605
Ensembl chr21:24,314,248...24,338,253
JBrowse link
G FAM168A family with sequence similarity 168 member A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,644,700...24,832,307
Ensembl chr21:24,768,108...24,827,784
JBrowse link
G FCHSD2 FCH and double SH3 domains 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,082,864...25,399,754
Ensembl chr21:25,072,161...25,397,717
JBrowse link
G GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,070,875...23,157,078
Ensembl chr21:23,070,964...23,156,532
JBrowse link
G IL18BP interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:26,076,515...26,080,741
Ensembl chr21:26,076,700...26,078,612
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,900,308...25,914,527
Ensembl chr21:25,900,900...25,915,577
JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,860,727...23,872,194
Ensembl chr21:23,871,648...23,871,947
JBrowse link
G KLHL35 kelch like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,159,703...23,170,899
Ensembl chr21:23,162,905...23,170,532
JBrowse link
G LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,981,170...25,986,942
Ensembl chr21:25,981,254...25,996,432
JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,845,253...23,846,977
Ensembl chr21:23,845,268...23,846,537
JBrowse link
G LOC106560171 transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,975,547...25,981,097 JBrowse link
G LOC119865100 small nucleolar RNA SNORD15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532
G LOC476816 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,917,476...25,923,267 JBrowse link
G LOC609612 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,944,350...25,951,010 JBrowse link
G MIR139 microRNA mir-139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,597,025...25,597,081
Ensembl chr21:25,597,024...25,597,080
JBrowse link
G MIR326 microRNA mir-326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,240,463...23,240,553
Ensembl chr21:23,240,463...23,240,553
JBrowse link
G MRPL48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,391,538...24,456,860 JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514
JBrowse link
G NEU3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,456,424...23,484,872 JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549
JBrowse link
G OR2AT2 olfactory receptor family 2 subfamily AT member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,435,792...23,437,070
Ensembl chr21:23,436,132...23,437,070
JBrowse link
G P2RY2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,987,568...25,009,754
Ensembl chr21:24,992,848...24,996,059
JBrowse link
G P2RY6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,929,502...24,966,857
Ensembl chr21:24,929,771...24,930,757
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642
JBrowse link
G PAAF1 proteasomal ATPase associated factor 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,337,226...24,379,203
Ensembl chr21:24,338,333...24,379,074
JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,542,030...25,635,661
Ensembl chr21:25,542,268...25,635,660
JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,918,588...23,973,607
Ensembl chr21:23,918,918...23,968,306
JBrowse link
G PHOX2A paired like homeobox 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,895,628...25,900,338
Ensembl chr21:25,892,321...25,900,351
JBrowse link
G PLEKHB1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,592,081...24,608,097
Ensembl chr21:24,593,030...24,608,035
JBrowse link
G POLD3 DNA polymerase delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,753,918...23,805,306
Ensembl chr21:23,754,278...23,802,104
JBrowse link
G PPME1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,041,074...24,127,178
Ensembl chr21:24,042,240...24,127,081
JBrowse link
G RAB6A RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,489,653...24,578,212
Ensembl chr21:24,492,359...24,576,524
JBrowse link
G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,835,792...24,854,739
Ensembl chr21:24,836,858...24,854,023
JBrowse link
G RNF121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:26,080,885...26,163,570
Ensembl chr21:26,079,692...26,163,493
JBrowse link
G RNF169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,574,478...23,655,305
Ensembl chr21:23,579,370...23,655,290
JBrowse link
G RPS3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,180,515...23,187,034
Ensembl chr21:23,180,515...23,187,034
JBrowse link
G SERPINH1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,032,761...23,041,649
Ensembl chr21:23,032,767...23,041,625
JBrowse link
G SLCO2B1 solute carrier organic anion transporter family member 2B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,347,593...23,393,480
Ensembl chr21:23,346,070...23,473,831
JBrowse link
G SPCS2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,485,367...23,510,249
Ensembl chr21:23,484,965...23,510,249
JBrowse link
G STARD10 StAR related lipid transfer domain containing 10 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,439,189...25,466,614
Ensembl chr21:25,433,208...25,466,583
JBrowse link
G TPBGL trophoblast glycoprotein like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,312,723...23,317,887
Ensembl chr21:23,314,357...23,315,535
JBrowse link
G UCP2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128
JBrowse link
G UCP3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639
JBrowse link
G XRRA1 X-ray radiation resistance associated 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,510,403...23,573,862
Ensembl chr21:23,516,686...23,570,535
JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857
JBrowse link
Chemotherapy-Induced Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme severity ISO DNA:deletion:intron:IVS16+1464-1751del (human)
associated with acute leukemia;DNA:insertion/deletion:intron 16:
RGD PMID:15806540 PMID:24819208 RGD:11038917 RGD:11530041 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G ITPA inosine triphosphatase ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III treatment ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chr38:21,054,870...21,060,948 JBrowse link
G MBL1 mannose binding lectin 1 susceptibility
disease progression
ISO associated with Neoplasms;DNA:SNP,haplotyep:promoter:
associated with leukemia;
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:
RGD PMID:20930093 PMID:24453114 PMID:24819208 RGD:11530041 RGD:11530043 RGD:11530056 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MDM2 MDM2 proto-oncogene susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) RGD PMID:21706156 RGD:11073725 NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596
JBrowse link
G TP53 tumor protein p53 susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) RGD PMID:21706156 RGD:11073725 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
cyclic hematopoiesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,668,371...57,684,111
Ensembl chr20:57,667,706...57,677,342
JBrowse link
G ABHD17A abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,083,381...57,092,021
Ensembl chr20:57,086,800...57,092,001
JBrowse link
G ADAMTSL5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,351,242...57,357,934
Ensembl chr20:57,351,575...57,357,520
JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,062,706...57,065,492 JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP Neutropenia, cyclic OMIA PMID:47249 PMID:127610 PMID:173440 PMID:336117 PMID:347941 More... NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258
JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,380,472...57,395,249
Ensembl chr20:57,380,460...57,395,226
JBrowse link
G ARHGAP45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,656,693...57,668,324
Ensembl chr20:57,657,154...57,787,713
JBrowse link
G ARID3A AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,724,747...57,746,637
Ensembl chr20:57,722,917...57,746,622
JBrowse link
G ATP5F1D ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,547,575...57,550,110
Ensembl chr20:57,547,371...57,549,722
JBrowse link
G ATP8B3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,144,740...57,160,402
Ensembl chr20:57,148,281...57,160,347
JBrowse link
G BTBD2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:56,999,749...57,008,283
Ensembl chr20:57,000,016...57,007,467
JBrowse link
G C20H19orf25 chromosome 20 C19orf25 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,376,356...57,380,511
Ensembl chr20:57,377,059...57,379,453
JBrowse link
G CBARP CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,554,162...57,559,126
Ensembl chr20:57,554,032...57,559,612
JBrowse link
G CFD complement factor D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713
JBrowse link
G CIRBP cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,521,609...57,526,526
Ensembl chr20:57,519,119...57,526,435
JBrowse link
G CNN2 calponin 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,684,959...57,691,621
Ensembl chr20:57,637,796...57,691,896
JBrowse link
G CSNK1G2 casein kinase 1 gamma 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,015,019...57,042,269
Ensembl chr20:57,015,614...57,040,694
JBrowse link
G DAZAP1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,411,249...57,435,852
Ensembl chr20:57,411,825...57,435,799
JBrowse link
G EFNA2 ephrin A2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cyclic hematopoiesis | ClinVar Annotator: match by term: Cyclical neutropenia OMIM
ClinVar
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 More... NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
JBrowse link
G FAM174C family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G FGF22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,899,300...57,903,064
Ensembl chr20:57,900,416...57,903,061
JBrowse link
G FSTL3 follistatin like 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,878,623...57,884,240
Ensembl chr20:57,879,722...57,884,172
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GPX4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,703,569...57,710,119 JBrowse link
G HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,920,089...57,941,057
Ensembl chr20:57,920,740...57,938,374
JBrowse link
G IZUMO4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:56,933,644...56,936,171
Ensembl chr20:56,933,646...56,936,163
JBrowse link
G KISS1R KISS1 receptor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,756,046...57,758,940
Ensembl chr20:57,756,197...57,758,940
JBrowse link
G KLF16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,102,968...57,110,795 JBrowse link
G MBD3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,296,713...57,312,988
Ensembl chr20:57,296,713...57,307,110
JBrowse link
G MED16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,771,543...57,782,839
Ensembl chr20:57,777,827...57,782,819
JBrowse link
G MEX3D mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,317,232...57,323,854 JBrowse link
G MIDN midnolin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,535,165...57,543,014
Ensembl chr20:57,536,880...57,542,977
JBrowse link
G MISP mitotic spindle positioning ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,839,423...57,847,013
Ensembl chr20:57,838,731...57,843,219
JBrowse link
G MKNK2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:56,966,656...56,978,414
Ensembl chr20:56,965,800...56,974,073
JBrowse link
G MOB3A MOB kinase activator 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:56,940,743...56,951,906
Ensembl chr20:56,940,618...56,950,841
JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825
JBrowse link
G ONECUT3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,161,598...57,181,840 JBrowse link
G PALM paralemmin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,847,631...57,868,790
Ensembl chr20:57,849,081...57,868,975
JBrowse link
G PCSK4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,370,035...57,376,207
Ensembl chr20:57,369,328...57,375,590
JBrowse link
G PLK5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,337,808...57,343,993
Ensembl chr20:57,337,874...57,343,945
JBrowse link
G PLPPR3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,800,998...57,806,233
Ensembl chr20:57,800,740...57,806,246
JBrowse link
G POLR2E RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,649,836...57,653,661
Ensembl chr20:57,649,868...57,654,199
JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,908,327...57,920,016
Ensembl chr20:57,908,351...57,920,027
JBrowse link
G PRSS57 serine protease 57 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,873,891...57,877,890
Ensembl chr20:57,874,770...57,877,888
JBrowse link
G PTBP1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,806,450...57,818,435
Ensembl chr20:57,807,826...57,818,359
JBrowse link
G PWWP3A PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,452,289...57,469,207
Ensembl chr20:57,452,300...57,468,692
JBrowse link
G R3HDM4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,761,100...57,769,656
Ensembl chr20:57,760,909...57,769,105
JBrowse link
G REEP6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,364,419...57,370,069 JBrowse link
G REXO1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,117,756...57,141,628
Ensembl chr20:57,130,460...57,140,889
JBrowse link
G RNF126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,890,333...57,899,364
Ensembl chr20:57,891,413...57,898,863
JBrowse link
G RPS15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,406,544...57,407,015
Ensembl chr20:57,406,545...57,413,421
JBrowse link
G SBNO2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,592,901...57,640,047
Ensembl chr20:57,267,724...57,640,750
JBrowse link
G SCAMP4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,047,022...57,061,274
Ensembl chr20:57,048,026...57,063,245
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981
JBrowse link
G TMEM259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,695,004...57,703,650
Ensembl chr20:57,695,002...57,749,891
JBrowse link
G UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,289,122...57,291,334 JBrowse link
G WDR18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,712,854...57,717,988
Ensembl chr20:57,712,740...57,718,107
JBrowse link
Drug-Induced Agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3 colony stimulating factor 3 treatment ISO associated with Multiple Myeloma;
associated with Graves Disease;
RGD PMID:8935143 PMID:15785251 RGD:11039034 RGD:11039041 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G IL1B interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO associated with Leukemia;protein:decreased expression:serum: RGD PMID:8698137 RGD:11528539 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
Drug-induced Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)
Breast Neoplasms;DNA:SNP: :3435 C>T(human)
RGD PMID:17534875 PMID:22271208 PMID:25007187 RGD:11080964 RGD:11080979 RGD:11081001 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 susceptibility
no_association
ISO associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295 PMID:23188068 RGD:11080980 RGD:11080999 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO associated with Hepatitis C, Chronic;
associated with Leukemia, Hairy Cell;
RGD PMID:2461131 PMID:17660602 RGD:11039035 RGD:11039036 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO RGD PMID:27400856 RGD:14928329 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DPYD dihydropyrimidine dehydrogenase treatment
no_association
ISO associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
associated with Neoplasms;DNA:missense mutations: :multiple
DNA:splice-site mutation, missense mutations: :multiple
associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)
RGD PMID:11156223 PMID:12209976 PMID:19473056 PMID:23942539 RGD:11098817 RGD:11251736 RGD:11251737 RGD:11251738 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO associated with Colorectal Neoplasms;DNA:SNP RGD PMID:23543295 RGD:11340199 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment ISO associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:21047201 RGD:11098572 NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor treatment ISO associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) RGD PMID:28924235 RGD:153323316 NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G IL1A interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)
associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)
RGD PMID:19933905 PMID:20730791 PMID:21883784 RGD:11344964 RGD:11344973 RGD:11352256 NCBI chr38:21,054,870...21,060,948 JBrowse link
G MDM2 MDM2 proto-oncogene susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) RGD PMID:24732641 RGD:11073715 NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit treatment ISO associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) RGD PMID:28924235 RGD:153323316 NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385
JBrowse link
G 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
JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) RGD PMID:20309628 RGD:11035278 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TP53 tumor protein p53 susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) RGD PMID:24732641 RGD:11073715 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 ISO associated with Hematologic Diseases;protein:increased expression:plasma (human) RGD PMID:23369970 RGD:11528559 NCBI chr 9:39,008,187...39,009,932 JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality OMIM
ClinVar
PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 5:14,795,750...14,808,203
Ensembl chr 5:14,795,750...14,807,262
JBrowse link
Lazy Leukocyte Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR1 WD repeat domain 1 ISO ClinVar Annotator: match by term: Lazy leukocyte syndrome | ClinVar Annotator: match by term: WDR1 deficiency OMIM
ClinVar
PMID:205284 PMID:25741868 PMID:27557945 PMID:27994071 PMID:28492532 More... NCBI chr 3:69,305,731...69,348,183
Ensembl chr 3:69,305,731...69,348,177
JBrowse link
neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16950614 PMID:25007187 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 5:64,047,188...64,229,582
Ensembl chr 5:64,047,175...64,229,077
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO RGD PMID:12125811 RGD:1578409 NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr  X:122,133,314...122,140,949
Ensembl chr  X:122,133,325...122,140,447
JBrowse link
G C5 complement C5 ISO RGD PMID:10188960 PMID:10516626 RGD:1600665 RGD:5130180 NCBI chr11:73,953,727...74,029,919
Ensembl chr11:73,953,727...74,029,851
JBrowse link
G C5AR1 complement C5a receptor 1 ISO RGD PMID:10516626 RGD:5130180 NCBI chr 1:108,659,637...108,704,217
Ensembl chr 1:108,659,637...108,675,401
JBrowse link
G C6H16orf92 chromosome 6 C16orf92 homolog ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 6:18,051,019...18,053,729
Ensembl chr 6:18,052,621...18,054,126
JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr  X:121,409,169...121,418,666
Ensembl chr  X:121,409,625...121,418,395
JBrowse link
G CFB complement factor B ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr12:1,400,143...1,406,267 JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048
JBrowse link
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More... NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857
JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:7875148 PMID:10832225 PMID:11264156 RGD:10449510 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:7524159 PMID:7529132 PMID:7543699 PMID:7688884 PMID:9740541 More... RGD:11039039 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12562666 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:9536098 PMID:10581030 PMID:17576681 PMID:20049848 PMID:23463630 More... NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
JBrowse link
G EPHX1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238
JBrowse link
G FCGR2B Fc fragment of IgG receptor IIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr38:20,980,777...20,994,403 JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO DNA:mutation:exon: RGD PMID:11810106 PMID:22684987 RGD:11040449 RGD:11040456 NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422
JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 PMID:32581362 NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710
JBrowse link
G HOXD13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr36:19,901,184...19,903,837 JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G 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
JBrowse link
G JAGN1 jagunal homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129144 PMID:25129145 NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085
JBrowse link
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr28:6,982,296...7,034,380
Ensembl chr28:6,982,146...7,033,104
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr19:22,932,251...22,978,437
Ensembl chr19:22,931,779...22,982,765
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO protein:increased expression:blood, T cell RGD PMID:22092365 RGD:6483522 NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19391036 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MUC16 mucin 16, cell surface associated ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr20:51,790,036...51,876,801 JBrowse link
G NUP98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr21:26,231,585...26,348,019
Ensembl chr21:26,220,963...26,336,020
JBrowse link
G PKP3 plakophilin 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr18:25,540,073...25,547,667
Ensembl chr18:25,540,073...25,547,667
JBrowse link
G POLR3C RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr17:58,634,299...58,646,056
Ensembl chr17:58,636,244...58,645,838
JBrowse link
G PTAFR platelet activating factor receptor treatment ISO RGD PMID:3011900 RGD:10043179 NCBI chr 2:72,225,386...72,256,353
Ensembl chr 2:72,225,386...72,256,352
JBrowse link
G RNF128 ring finger protein 128 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr  X:80,241,285...80,356,094
Ensembl chr  X:80,241,522...80,356,110
JBrowse link
G RPS14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 4:58,661,335...58,667,968
Ensembl chr 4:58,661,152...58,667,964
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
JBrowse link
G SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28369036 NCBI chr 9:11,787,676...11,823,900
Ensembl chr 9:11,788,485...11,808,118
JBrowse link
G STAT2 signal transducer and activator of transcription 2 susceptibility ISO associated with Chronic Hepatitis C;DNA:SNP:intron 5:g.4757G>T (human) RGD PMID:19200137 RGD:41789633 NCBI chr10:641,543...660,882
Ensembl chr10:642,718...658,546
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO associated with T-cell large granular lymphocyte leukemia RGD PMID:22591296 RGD:6892936 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TLE2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr20:56,138,654...56,157,625
Ensembl chr20:56,137,746...56,157,583
JBrowse link
G TMEM63A transmembrane protein 63A ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 7:38,936,989...38,964,349
Ensembl chr 7:38,937,041...38,964,345
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:15986200 RGD:1580321 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TPMT thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18662289 NCBI chr35:16,928,991...16,953,891
Ensembl chr35:16,929,240...16,953,229
JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr30:28,073,484...28,184,121
Ensembl chr30:28,072,655...28,181,749
JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr24:18,401,440...18,424,605
Ensembl chr24:18,399,572...18,424,510
JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr13:37,128,915...37,214,643
Ensembl chr13:37,130,999...37,214,997
JBrowse link
Nonimmune Chronic Idiopathic Neutropenia, Adult term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFI1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults OMIM
ClinVar
PMID:11807637 PMID:12778173 PMID:25741868 PMID:28492532 NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422
JBrowse link
G TERT telomerase reverse transcriptase ISO RGD PMID:22133767 RGD:11038657 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
poikiloderma with neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USB1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Poikiloderma with neutropenia OMIM
ClinVar
PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 More... NCBI chr 2:58,535,173...58,549,877
Ensembl chr 2:58,536,142...58,549,778
JBrowse link
Severe Chronic Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3R colony stimulating factor 3 receptor ISO RGD PMID:9639496 RGD:10450484 NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882
JBrowse link
severe congenital neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3R colony stimulating factor 3 receptor disease_progression ISO ClinVar Annotator: match by term: Severe congenital neutropenia RGD
ClinVar
PMID:16985178 PMID:24753537 PMID:26324699 PMID:28492532 PMID:32581362 RGD:10450485 NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882
JBrowse link
G ELANE elastase, neutrophil expressed ISO DNA:mutation:intron:c.597+1G>A (human)
mRNA:decreased expression:myeloid CD33+ cell:
DNA:mutations: :
RGD PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599 RGD:10450514 RGD:10450519 RGD:10450525 RGD:1598891 NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
JBrowse link
G FCHO1 FCH and mu domain containing endocytic adaptor 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:30822429 PMID:32098969 NCBI chr20:45,106,982...45,131,173
Ensembl chr20:45,106,983...45,134,325
JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chr 9:19,299,619...19,304,038
Ensembl chr 9:19,260,240...19,303,995
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022 MouseDO NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422
JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:16199547 PMID:17187068 PMID:19036076 PMID:19499579 PMID:22624626 More... NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710
JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:25129144 PMID:25741868 PMID:25851723 PMID:28492532 PMID:30044346 More... NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Congenital neutropenia ClinVar PMID:24753205 NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317
JBrowse link
severe congenital neutropenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant OMIM
ClinVar
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 More... NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:24753205 NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:16648375 PMID:25741868 PMID:28492532 NCBI chr13:1,101,226...1,834,933
Ensembl chr13:1,101,610...1,871,225
JBrowse link
Severe Congenital Neutropenia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALR2 galanin receptor 2 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive ClinVar PMID:32273475 NCBI chr 9:4,559,710...4,562,474
Ensembl chr 9:4,560,067...4,562,463
JBrowse link
G SRP68 signal recognition particle 68 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive OMIM
ClinVar
PMID:32273475 NCBI chr 9:4,567,613...4,604,230
Ensembl chr 9:4,567,628...4,604,229
JBrowse link
Severe Congenital Neutropenia 11, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEC61A1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 11, autosomal dominant OMIM
ClinVar
PMID:32325141 NCBI chr20:2,070,739...2,087,790
Ensembl chr20:2,070,248...2,087,789
JBrowse link
severe congenital neutropenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857
JBrowse link
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741
JBrowse link
G EVI5 ecotropic viral integration site 5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:56,255,753...56,450,631
Ensembl chr 6:56,256,305...56,484,422
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant OMIM
ClinVar
PMID:9536098 PMID:11807637 PMID:12778173 PMID:17576681 PMID:20560965 More... NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422
JBrowse link
G LOC119872403 small nucleolar RNA SNORD21 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956
JBrowse link
severe congenital neutropenia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,432,067...42,443,463
Ensembl chr 7:42,428,113...42,443,429
JBrowse link
G ADAMTSL4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,736,628...59,747,689
Ensembl chr17:59,736,534...59,746,980
JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
JBrowse link
G ANP32E acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,460,864...59,482,467
Ensembl chr17:59,462,766...59,477,936
JBrowse link
G ANXA9 annexin A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,084,296...60,098,631
Ensembl chr17:60,084,241...60,094,136
JBrowse link
G APH1A aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,510,805...59,514,431
Ensembl chr17:59,502,523...59,514,403
JBrowse link
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,961,041...42,964,053 JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,835,322...41,850,488
Ensembl chr 7:41,812,353...41,850,488
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 Ensembl chr17:59,941,353...60,010,867
Ensembl chr17:59,941,353...60,010,867
JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,046,262...42,227,737
Ensembl chr 7:42,046,569...42,225,456
JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,940,219...42,959,964
Ensembl chr 7:42,941,753...42,964,026
JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
JBrowse link
G BNIPL BCL2 interacting protein like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,126,341...60,135,209
Ensembl chr17:60,126,745...60,134,605
JBrowse link
G C17H1orf54 chromosome 17 C1orf54 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,514,661...59,522,685
Ensembl chr17:59,516,519...59,523,562
JBrowse link
G C17H1orf56 chromosome 17 C1orf56 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,135,343...60,137,489
Ensembl chr17:60,135,463...60,136,527
JBrowse link
G C2CD4D C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G C7H1orf43 chromosome 7 C1orf43 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:43,015,099...43,033,989
Ensembl chr 7:43,015,268...43,033,974
JBrowse link
G CA14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,504,181...59,510,497
Ensembl chr17:59,504,483...59,510,127
JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,566,274...41,583,903
Ensembl chr 7:41,566,292...41,584,863
JBrowse link
G CDC42SE1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,138,497...60,146,344
Ensembl chr17:60,140,632...60,155,099
JBrowse link
G CELF3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,733,148...60,747,553
Ensembl chr17:60,735,628...60,746,615
JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,069,723...60,073,622
Ensembl chr17:60,070,585...60,081,502
JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,553,423...60,578,804
Ensembl chr17:60,559,116...60,578,705
JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,786,505...42,797,976
Ensembl chr 7:42,789,600...42,795,722
JBrowse link
G CHTOP chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,418,902...43,428,012
Ensembl chr 7:43,419,707...43,427,856
JBrowse link
G CIART circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,524,715...59,529,535
Ensembl chr17:59,525,987...59,529,402
JBrowse link
G CKS1B CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,496,912...42,499,907
Ensembl chr 7:42,496,912...42,499,875
JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,284,869...42,294,434
Ensembl chr 7:42,284,699...42,294,394
JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,277,580...41,282,158
Ensembl chr 7:41,277,644...41,281,833
JBrowse link
G CREB3L4 cAMP responsive element binding protein 3 like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,161,814...43,166,149
Ensembl chr 7:43,161,816...43,165,641
JBrowse link
G CRNN cornulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,380,706...61,386,294
Ensembl chr17:61,380,706...61,386,504
JBrowse link
G CRTC2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,175,349...43,184,242
Ensembl chr 7:43,175,349...43,184,244
JBrowse link
G CTSK cathepsin K ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507
JBrowse link
G CTSS cathepsin S ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849
JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,011,485...42,045,900
Ensembl chr 7:42,011,506...42,026,894
JBrowse link
G DCST1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,443,787...42,457,361
Ensembl chr 7:42,428,113...42,457,062
JBrowse link
G DCST2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,457,294...42,466,549
Ensembl chr 7:42,457,366...42,466,374
JBrowse link
G DENND4B DENN domain containing 4B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,185,637...43,198,309
Ensembl chr 7:43,185,550...43,198,577
JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,368,898...42,369,686 JBrowse link
G ECM1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,696,125...59,701,990
Ensembl chr17:59,696,477...59,701,744
JBrowse link
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,373,197...42,381,161
Ensembl chr 7:42,373,639...42,378,946
JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,409,215...42,417,701
Ensembl chr 7:42,410,119...42,417,599
JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,427,539...42,431,788
Ensembl chr 7:42,428,113...42,443,429
JBrowse link
G ENSA endosulfine alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,800,822...59,807,884
Ensembl chr17:59,801,306...59,807,869
JBrowse link
G ENTREP3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,299,568...42,305,177
Ensembl chr 7:42,300,009...42,372,615
JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,489,045...42,494,524
Ensembl chr 7:42,489,061...42,494,471
JBrowse link
G FLG filaggrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,217,915...61,233,068 JBrowse link
G GABPB2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,154,346...60,183,839
Ensembl chr17:60,155,407...60,183,716
JBrowse link
G GATAD2B GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,201,307...43,295,868
Ensembl chr 7:43,254,305...43,294,211
JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,588,024...41,590,857
Ensembl chr 7:41,588,075...41,590,555
JBrowse link
G GOLPH3L golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,819,152...59,859,650
Ensembl chr17:59,819,157...59,859,602
JBrowse link
G GPATCH4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,359,986...41,367,085
Ensembl chr 7:41,360,575...41,366,665
JBrowse link
G HAPLN2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,340,493...41,346,607
Ensembl chr 7:41,341,883...41,344,117
JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Kostmann syndrome OMIM
ClinVar
PMID:9536098 PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 More... NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710
JBrowse link
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,272,756...42,282,770
Ensembl chr 7:42,273,571...42,282,595
JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,244,740...41,247,919
Ensembl chr 7:41,238,175...41,247,921
JBrowse link
G HORMAD1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,860,527...59,883,031
Ensembl chr17:59,860,934...59,882,980
JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
JBrowse link
G ILF2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,403,136...43,410,378
Ensembl chr 7:43,403,222...43,410,375
JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,161,036...41,176,739
Ensembl chr 7:41,161,333...41,175,940
JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,325,522...43,361,669
Ensembl chr 7:43,326,315...43,361,362
JBrowse link
G IQGAP3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,384,539...41,420,529
Ensembl chr 7:41,382,994...41,419,742
JBrowse link
G ISG20L2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,258,140...41,263,635
Ensembl chr 7:41,258,750...41,263,003
JBrowse link
G IVL involucrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,714,470...61,716,961 JBrowse link
G JTB jumping translocation breakpoint ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,159,164...43,161,907 JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,562,500...42,704,862
Ensembl chr 7:42,572,432...42,698,047
JBrowse link
G KHDC4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,875,837...41,893,819
Ensembl chr 7:41,875,652...41,894,572
JBrowse link
G KPLCE KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,541,989...61,543,947
Ensembl chr17:61,541,477...61,543,761
JBrowse link
G KPRP keratinocyte proline rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,544,787...61,575,610
Ensembl chr17:61,573,127...61,574,902
JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,354,793...42,357,596
Ensembl chr 7:42,354,040...42,357,600
JBrowse link
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,760,632...41,764,926
Ensembl chr 7:41,760,638...41,763,299
JBrowse link
G LCE6A late cornified envelope 6A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,653,363...61,654,514 JBrowse link
G LELP1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,927,443...61,929,285 JBrowse link
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,487,902...42,488,901
Ensembl chr 7:42,488,363...42,488,548
JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,814,948...60,820,517
Ensembl chr17:60,815,499...60,817,448
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G LOC100685649 cornifin-A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,794,303...61,796,053 JBrowse link
G LOC102156046 protein S100-A15A-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,503,226...43,537,485 JBrowse link
G LOC119863999 hornerin-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G LOC483211 filaggrin-2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,311,558...61,323,059 JBrowse link
G LOC490422 GON-4-like protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,927,667...42,000,649 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,994,297...61,995,591 JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,222,628...60,230,967
Ensembl chr17:60,223,347...60,230,821
JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,759,605...59,763,111
Ensembl chr17:59,759,605...59,763,111
JBrowse link
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,455,771...41,473,807
Ensembl chr 7:41,458,514...41,470,197
JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,251,838...41,258,130
Ensembl chr 7:41,245,628...41,257,937
JBrowse link
G MEX3A mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,742,777...41,749,730
Ensembl chr 7:41,742,785...41,747,628
JBrowse link
G MINDY1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,092,245...60,103,797
Ensembl chr17:60,094,702...60,103,307
JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,142,411...60,153,650
Ensembl chr17:60,152,378...60,152,650
JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,248,851...41,251,878
Ensembl chr 7:41,249,992...41,251,879
JBrowse link
G MRPL9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,782,975...60,787,313 JBrowse link
G MRPS21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,534,732...59,543,449
Ensembl chr17:59,534,859...59,543,027
JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,000,141...42,003,941
Ensembl chr 7:42,000,092...42,003,891
JBrowse link
G MTMR11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,214,794...59,223,953
Ensembl chr17:59,214,986...59,222,972
JBrowse link
G MTX1 metaxin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,322,755...42,327,918
Ensembl chr 7:42,322,762...42,328,701
JBrowse link
G MUC1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,367,248...41,369,733
Ensembl chr 7:41,367,275...41,369,862
JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736
JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,382,246...43,396,464
Ensembl chr 7:43,283,418...43,396,027
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
JBrowse link
G NUP210L nucleoporin 210 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:43,068,259...43,149,202
Ensembl chr 7:43,068,341...43,161,853
JBrowse link
G OAZ3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,789,541...60,792,954
Ensembl chr17:60,786,963...60,792,954
JBrowse link
G OTUD7B OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,225,640...59,280,875
Ensembl chr17:59,229,362...59,280,934
JBrowse link
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,625,759...41,629,995
Ensembl chr 7:41,628,458...41,629,383
JBrowse link
G PBXIP1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,514,306...42,524,056
Ensembl chr 7:42,514,423...42,523,585
JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,359,545...60,386,093
Ensembl chr17:60,360,236...60,384,778
JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,257,017...60,295,866
Ensembl chr17:60,257,332...60,295,866
JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755
JBrowse link
G PLEKHO1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,402,758...59,411,906
Ensembl chr17:59,402,834...59,411,788
JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
JBrowse link
G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,464,609...60,511,735
Ensembl chr17:60,465,230...60,511,934
JBrowse link
G PRCC proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,200,398...41,225,494
Ensembl chr 7:41,200,411...41,226,186
JBrowse link
G PRPF3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,552,227...59,577,027
Ensembl chr17:59,552,340...59,577,009
JBrowse link
G PRR9 proline rich 9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,938,089...61,939,857
Ensembl chr17:61,938,737...61,939,063
JBrowse link
G PRUNE1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,104,724...60,125,899
Ensembl chr17:60,104,958...60,124,900
JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,461,208...60,463,604
Ensembl chr17:60,461,240...60,463,594
JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,306,134...60,313,610
Ensembl chr17:60,306,229...60,313,610
JBrowse link
G PYGO2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,509,760...42,513,744
Ensembl chr 7:42,509,968...42,512,091
JBrowse link
G RAB13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,152,903...43,156,720
Ensembl chr 7:43,153,002...43,156,720
JBrowse link
G RAB25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,752,975...41,758,954
Ensembl chr 7:41,752,975...41,758,906
JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,393,773...60,400,150
Ensembl chr17:60,395,321...60,400,009
JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,532,266...41,548,523
Ensembl chr 7:41,538,214...41,566,057
JBrowse link
G RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,753,380...60,759,713
Ensembl chr17:60,753,092...60,759,733
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173
JBrowse link
G RORC RAR related orphan receptor C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,821,498...60,842,485
Ensembl chr17:60,821,981...60,842,453
JBrowse link
G RPRD2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,587,157...59,676,885
Ensembl chr17:59,587,157...59,672,964
JBrowse link
G RPS27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:43,149,465...43,150,658
Ensembl chr 7:43,067,161...43,309,293
JBrowse link
G RPTN repetin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,133,204...61,136,828
Ensembl chr17:61,133,204...61,136,844
JBrowse link
G RUSC1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,232,791...42,240,862
Ensembl chr 7:42,233,156...42,241,345
JBrowse link
G S100A1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,428,819...43,432,637
Ensembl chr 7:43,428,820...43,433,459
JBrowse link
G S100A10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,984,138...60,994,915 JBrowse link
G S100A11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,020,136...61,050,513 JBrowse link
G S100A12 S100 calcium binding protein A12 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,554,078...43,555,470
Ensembl chr 7:43,554,146...43,555,475
JBrowse link
G S100A13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,428,538...43,442,052
Ensembl chr 7:43,433,253...43,447,513
JBrowse link
G S100A14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,443,073...43,446,416
Ensembl chr 7:43,444,396...43,446,287
JBrowse link
G S100A16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,447,422...43,452,625
Ensembl chr 7:43,447,494...43,452,130
JBrowse link
G S100A2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,473,788...43,482,073
Ensembl chr 7:43,471,753...43,482,105
JBrowse link
G S100A3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,490,128...43,492,383 JBrowse link
G S100A4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,494,007...43,496,021 JBrowse link
G S100A5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,497,738...43,501,010
Ensembl chr 7:43,491,466...43,500,936
JBrowse link
G S100A6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,501,430...43,503,100
Ensembl chr 7:43,501,989...43,541,604
JBrowse link
G S100A8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,540,667...43,541,604
Ensembl chr 7:43,501,989...43,541,604
JBrowse link
G S100A9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,566,993...43,570,074 JBrowse link
G SCAMP3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,294,764...42,299,097 JBrowse link
G SCNM1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,231,034...60,233,349
Ensembl chr17:60,231,104...60,233,337
JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,410,727...60,418,770
Ensembl chr17:60,410,734...60,418,704
JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,670,814...41,695,349
Ensembl chr 7:41,672,120...41,692,460
JBrowse link
G SEMA6C semaphorin 6C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,195,798...60,208,630
Ensembl chr17:60,195,785...60,208,630
JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551
JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991
JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,186,721...41,195,987
Ensembl chr 7:41,186,252...41,195,122
JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276
JBrowse link
G SHE Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,853,116...42,869,293
Ensembl chr 7:42,853,083...42,867,858
JBrowse link
G SLC25A44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,630,868...41,665,894
Ensembl chr 7:41,630,098...41,665,791
JBrowse link
G SLC27A3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,321,059...43,325,766
Ensembl chr 7:43,321,130...43,325,089
JBrowse link
G SLC39A1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,171,219...43,174,876
Ensembl chr 7:43,171,287...43,174,036
JBrowse link
G SLC50A1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,370,031...42,372,390
Ensembl chr 7:42,370,299...42,372,322
JBrowse link
G SMCP sperm mitochondria associated cysteine rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,694,605...61,699,122
Ensembl chr17:61,694,605...61,699,225
JBrowse link
G SMG5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,598,111...41,624,575
Ensembl chr 7:41,598,104...41,624,575
JBrowse link
G SNAPIN SNAP associated protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,410,554...43,411,929
Ensembl chr 7:43,410,998...43,412,323
JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,653,719...60,727,928
Ensembl chr17:60,653,732...60,724,253
JBrowse link
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,790,289...41,801,438
Ensembl chr 7:41,795,565...41,801,421
JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,910,102...41,929,020
Ensembl chr 7:41,912,920...41,929,617
JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,681,889...59,695,747
Ensembl chr17:59,681,936...59,695,746
JBrowse link
G TCHH trichohyalin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,095,132...61,102,663 JBrowse link
G TCHHL1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,077,129...61,081,240
Ensembl chr17:61,077,944...61,081,233
JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,794,937...60,807,852
Ensembl chr17:60,795,813...60,805,449
JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,327,899...42,338,177
Ensembl chr 7:42,328,592...42,338,171
JBrowse link
G THEM4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,889,245...60,924,848
Ensembl chr17:60,891,660...60,925,091
JBrowse link
G THEM5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,857,348...60,865,789
Ensembl chr17:60,857,350...60,865,579
JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,591,332...41,597,993
Ensembl chr 7:41,591,848...41,595,816
JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,234,061...60,238,950
Ensembl chr17:60,234,096...60,238,864
JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,219,239...60,222,818
Ensembl chr17:60,221,592...60,222,146
JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296
JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,345,506...42,354,667
Ensembl chr 7:42,345,523...42,354,557
JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,372,960...41,381,514 JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,580,032...60,628,422
Ensembl chr17:60,580,082...60,627,174
JBrowse link
G UBAP2L ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,973,598...43,015,007
Ensembl chr 7:42,974,092...43,010,848
JBrowse link
G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,806,185...42,813,586
Ensembl chr 7:42,806,185...42,814,747
JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,764,209...41,778,457
Ensembl chr 7:41,764,253...41,777,002
JBrowse link
G VPS45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,327,781...59,402,172
Ensembl chr17:59,327,806...59,397,811
JBrowse link
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,239,299...60,252,323
Ensembl chr17:60,239,395...60,252,280
JBrowse link
G ZBTB7B zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,468,376...42,482,219
Ensembl chr 7:42,468,247...42,483,436
JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,350,753...60,359,542
Ensembl chr17:60,353,847...60,359,619
JBrowse link
severe congenital neutropenia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PC3 glucose-6-phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19011569 PMID:19118303 More... NCBI chr 9:19,299,619...19,304,038
Ensembl chr 9:19,260,240...19,303,995
JBrowse link
severe congenital neutropenia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,432,067...42,443,463
Ensembl chr 7:42,428,113...42,443,429
JBrowse link
G ADAMTSL4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,736,628...59,747,689
Ensembl chr17:59,736,534...59,746,980
JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
JBrowse link
G ANP32E acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,460,864...59,482,467
Ensembl chr17:59,462,766...59,477,936
JBrowse link
G ANXA9 annexin A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,084,296...60,098,631
Ensembl chr17:60,084,241...60,094,136
JBrowse link
G APH1A aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,510,805...59,514,431
Ensembl chr17:59,502,523...59,514,403
JBrowse link
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,961,041...42,964,053 JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,835,322...41,850,488
Ensembl chr 7:41,812,353...41,850,488
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 Ensembl chr17:59,941,353...60,010,867
Ensembl chr17:59,941,353...60,010,867
JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,046,262...42,227,737
Ensembl chr 7:42,046,569...42,225,456
JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,940,219...42,959,964
Ensembl chr 7:42,941,753...42,964,026
JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
JBrowse link
G BNIPL BCL2 interacting protein like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,126,341...60,135,209
Ensembl chr17:60,126,745...60,134,605
JBrowse link
G C17H1orf54 chromosome 17 C1orf54 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,514,661...59,522,685
Ensembl chr17:59,516,519...59,523,562
JBrowse link
G C17H1orf56 chromosome 17 C1orf56 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,135,343...60,137,489
Ensembl chr17:60,135,463...60,136,527
JBrowse link
G C2CD4D C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G C7H1orf43 chromosome 7 C1orf43 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,015,099...43,033,989
Ensembl chr 7:43,015,268...43,033,974
JBrowse link
G CA14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,504,181...59,510,497
Ensembl chr17:59,504,483...59,510,127
JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,566,274...41,583,903
Ensembl chr 7:41,566,292...41,584,863
JBrowse link
G CDC42SE1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,138,497...60,146,344
Ensembl chr17:60,140,632...60,155,099
JBrowse link
G CELF3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,733,148...60,747,553
Ensembl chr17:60,735,628...60,746,615
JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,069,723...60,073,622
Ensembl chr17:60,070,585...60,081,502
JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,553,423...60,578,804
Ensembl chr17:60,559,116...60,578,705
JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,786,505...42,797,976
Ensembl chr 7:42,789,600...42,795,722
JBrowse link
G CHTOP chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,418,902...43,428,012
Ensembl chr 7:43,419,707...43,427,856
JBrowse link
G CIART circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,524,715...59,529,535
Ensembl chr17:59,525,987...59,529,402
JBrowse link
G CKS1B CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,496,912...42,499,907
Ensembl chr 7:42,496,912...42,499,875
JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,284,869...42,294,434
Ensembl chr 7:42,284,699...42,294,394
JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,277,580...41,282,158
Ensembl chr 7:41,277,644...41,281,833
JBrowse link
G CREB3L4 cAMP responsive element binding protein 3 like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,161,814...43,166,149
Ensembl chr 7:43,161,816...43,165,641
JBrowse link
G CRNN cornulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,380,706...61,386,294
Ensembl chr17:61,380,706...61,386,504
JBrowse link
G CRTC2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,175,349...43,184,242
Ensembl chr 7:43,175,349...43,184,244
JBrowse link
G CTSK cathepsin K ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507
JBrowse link
G CTSS cathepsin S ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849
JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,011,485...42,045,900
Ensembl chr 7:42,011,506...42,026,894
JBrowse link
G DCST1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,443,787...42,457,361
Ensembl chr 7:42,428,113...42,457,062
JBrowse link
G DCST2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,457,294...42,466,549
Ensembl chr 7:42,457,366...42,466,374
JBrowse link
G DENND4B DENN domain containing 4B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,185,637...43,198,309
Ensembl chr 7:43,185,550...43,198,577
JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,368,898...42,369,686 JBrowse link
G ECM1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,696,125...59,701,990
Ensembl chr17:59,696,477...59,701,744
JBrowse link
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,373,197...42,381,161
Ensembl chr 7:42,373,639...42,378,946
JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,409,215...42,417,701
Ensembl chr 7:42,410,119...42,417,599
JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,427,539...42,431,788
Ensembl chr 7:42,428,113...42,443,429
JBrowse link
G ENSA endosulfine alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,800,822...59,807,884
Ensembl chr17:59,801,306...59,807,869
JBrowse link
G ENTREP3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,299,568...42,305,177
Ensembl chr 7:42,300,009...42,372,615
JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,489,045...42,494,524
Ensembl chr 7:42,489,061...42,494,471
JBrowse link
G FLG filaggrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,217,915...61,233,068 JBrowse link
G GABPB2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,154,346...60,183,839
Ensembl chr17:60,155,407...60,183,716
JBrowse link
G GATAD2B GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,201,307...43,295,868
Ensembl chr 7:43,254,305...43,294,211
JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,588,024...41,590,857
Ensembl chr 7:41,588,075...41,590,555
JBrowse link
G GOLPH3L golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,819,152...59,859,650
Ensembl chr17:59,819,157...59,859,602
JBrowse link
G GPATCH4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,359,986...41,367,085
Ensembl chr 7:41,360,575...41,366,665
JBrowse link
G HAPLN2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,340,493...41,346,607
Ensembl chr 7:41,341,883...41,344,117
JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710
JBrowse link
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,272,756...42,282,770
Ensembl chr 7:42,273,571...42,282,595
JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,244,740...41,247,919
Ensembl chr 7:41,238,175...41,247,921
JBrowse link
G HORMAD1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,860,527...59,883,031
Ensembl chr17:59,860,934...59,882,980
JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
JBrowse link
G ILF2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,403,136...43,410,378
Ensembl chr 7:43,403,222...43,410,375
JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,161,036...41,176,739
Ensembl chr 7:41,161,333...41,175,940
JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,325,522...43,361,669
Ensembl chr 7:43,326,315...43,361,362
JBrowse link
G IQGAP3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,384,539...41,420,529
Ensembl chr 7:41,382,994...41,419,742
JBrowse link
G ISG20L2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,258,140...41,263,635
Ensembl chr 7:41,258,750...41,263,003
JBrowse link
G IVL involucrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,714,470...61,716,961 JBrowse link
G JTB jumping translocation breakpoint ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,159,164...43,161,907 JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,562,500...42,704,862
Ensembl chr 7:42,572,432...42,698,047
JBrowse link
G KHDC4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,875,837...41,893,819
Ensembl chr 7:41,875,652...41,894,572
JBrowse link
G KPLCE KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,541,989...61,543,947
Ensembl chr17:61,541,477...61,543,761
JBrowse link
G KPRP keratinocyte proline rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,544,787...61,575,610
Ensembl chr17:61,573,127...61,574,902
JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,354,793...42,357,596
Ensembl chr 7:42,354,040...42,357,600
JBrowse link
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,760,632...41,764,926
Ensembl chr 7:41,760,638...41,763,299
JBrowse link
G LCE6A late cornified envelope 6A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,653,363...61,654,514 JBrowse link
G LELP1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,927,443...61,929,285 JBrowse link
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,487,902...42,488,901
Ensembl chr 7:42,488,363...42,488,548
JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,814,948...60,820,517
Ensembl chr17:60,815,499...60,817,448
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G LOC100685649 cornifin-A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,794,303...61,796,053 JBrowse link
G LOC102156046 protein S100-A15A-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,503,226...43,537,485 JBrowse link
G LOC119863999 hornerin-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G LOC483211 filaggrin-2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,311,558...61,323,059 JBrowse link
G LOC490422 GON-4-like protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,927,667...42,000,649 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,994,297...61,995,591 JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,222,628...60,230,967
Ensembl chr17:60,223,347...60,230,821
JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,759,605...59,763,111
Ensembl chr17:59,759,605...59,763,111
JBrowse link
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,455,771...41,473,807
Ensembl chr 7:41,458,514...41,470,197
JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,251,838...41,258,130
Ensembl chr 7:41,245,628...41,257,937
JBrowse link
G MEX3A mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,742,777...41,749,730
Ensembl chr 7:41,742,785...41,747,628
JBrowse link
G MINDY1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,092,245...60,103,797
Ensembl chr17:60,094,702...60,103,307
JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,142,411...60,153,650
Ensembl chr17:60,152,378...60,152,650
JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,248,851...41,251,878
Ensembl chr 7:41,249,992...41,251,879
JBrowse link
G MRPL9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,782,975...60,787,313 JBrowse link
G MRPS21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,534,732...59,543,449
Ensembl chr17:59,534,859...59,543,027
JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,000,141...42,003,941
Ensembl chr 7:42,000,092...42,003,891
JBrowse link
G MTMR11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,214,794...59,223,953
Ensembl chr17:59,214,986...59,222,972
JBrowse link
G MTX1 metaxin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,322,755...42,327,918
Ensembl chr 7:42,322,762...42,328,701
JBrowse link
G MUC1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,367,248...41,369,733
Ensembl chr 7:41,367,275...41,369,862
JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736
JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,382,246...43,396,464
Ensembl chr 7:43,283,418...43,396,027
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
JBrowse link
G NUP210L nucleoporin 210 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,068,259...43,149,202
Ensembl chr 7:43,068,341...43,161,853
JBrowse link
G OAZ3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,789,541...60,792,954
Ensembl chr17:60,786,963...60,792,954
JBrowse link
G OTUD7B OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,225,640...59,280,875
Ensembl chr17:59,229,362...59,280,934
JBrowse link
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,625,759...41,629,995
Ensembl chr 7:41,628,458...41,629,383
JBrowse link
G PBXIP1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,514,306...42,524,056
Ensembl chr 7:42,514,423...42,523,585
JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,359,545...60,386,093
Ensembl chr17:60,360,236...60,384,778
JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,257,017...60,295,866
Ensembl chr17:60,257,332...60,295,866
JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755
JBrowse link
G PLEKHO1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,402,758...59,411,906
Ensembl chr17:59,402,834...59,411,788
JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
JBrowse link
G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,464,609...60,511,735
Ensembl chr17:60,465,230...60,511,934
JBrowse link
G PRCC proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,200,398...41,225,494
Ensembl chr 7:41,200,411...41,226,186
JBrowse link
G PRPF3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,552,227...59,577,027
Ensembl chr17:59,552,340...59,577,009
JBrowse link
G PRR9 proline rich 9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,938,089...61,939,857
Ensembl chr17:61,938,737...61,939,063
JBrowse link
G PRUNE1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,104,724...60,125,899
Ensembl chr17:60,104,958...60,124,900
JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,461,208...60,463,604
Ensembl chr17:60,461,240...60,463,594
JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,306,134...60,313,610
Ensembl chr17:60,306,229...60,313,610
JBrowse link
G PYGO2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,509,760...42,513,744
Ensembl chr 7:42,509,968...42,512,091
JBrowse link
G RAB13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,152,903...43,156,720
Ensembl chr 7:43,153,002...43,156,720
JBrowse link
G RAB25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,752,975...41,758,954
Ensembl chr 7:41,752,975...41,758,906
JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,393,773...60,400,150
Ensembl chr17:60,395,321...60,400,009
JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,532,266...41,548,523
Ensembl chr 7:41,538,214...41,566,057
JBrowse link
G RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,753,380...60,759,713
Ensembl chr17:60,753,092...60,759,733
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173
JBrowse link
G RORC RAR related orphan receptor C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,821,498...60,842,485
Ensembl chr17:60,821,981...60,842,453
JBrowse link
G RPRD2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,587,157...59,676,885
Ensembl chr17:59,587,157...59,672,964
JBrowse link
G RPS27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,149,465...43,150,658
Ensembl chr 7:43,067,161...43,309,293
JBrowse link
G RPTN repetin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,133,204...61,136,828
Ensembl chr17:61,133,204...61,136,844
JBrowse link
G RUSC1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,232,791...42,240,862
Ensembl chr 7:42,233,156...42,241,345
JBrowse link
G S100A1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,428,819...43,432,637
Ensembl chr 7:43,428,820...43,433,459
JBrowse link
G S100A10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,984,138...60,994,915 JBrowse link
G S100A11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,020,136...61,050,513 JBrowse link
G S100A12 S100 calcium binding protein A12 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,554,078...43,555,470
Ensembl chr 7:43,554,146...43,555,475
JBrowse link
G S100A13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,428,538...43,442,052
Ensembl chr 7:43,433,253...43,447,513
JBrowse link
G S100A14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,443,073...43,446,416
Ensembl chr 7:43,444,396...43,446,287
JBrowse link
G S100A16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,447,422...43,452,625
Ensembl chr 7:43,447,494...43,452,130
JBrowse link
G S100A2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,473,788...43,482,073
Ensembl chr 7:43,471,753...43,482,105
JBrowse link
G S100A3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,490,128...43,492,383 JBrowse link
G S100A4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,494,007...43,496,021 JBrowse link
G S100A5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,497,738...43,501,010
Ensembl chr 7:43,491,466...43,500,936
JBrowse link
G S100A6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,501,430...43,503,100
Ensembl chr 7:43,501,989...43,541,604
JBrowse link
G S100A8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,540,667...43,541,604
Ensembl chr 7:43,501,989...43,541,604
JBrowse link
G S100A9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,566,993...43,570,074 JBrowse link
G SCAMP3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,294,764...42,299,097 JBrowse link
G SCNM1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,231,034...60,233,349
Ensembl chr17:60,231,104...60,233,337
JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,410,727...60,418,770
Ensembl chr17:60,410,734...60,418,704
JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,670,814...41,695,349
Ensembl chr 7:41,672,120...41,692,460
JBrowse link
G SEMA6C semaphorin 6C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,195,798...60,208,630
Ensembl chr17:60,195,785...60,208,630
JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551
JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991
JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,186,721...41,195,987
Ensembl chr 7:41,186,252...41,195,122
JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276
JBrowse link
G SHE Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,853,116...42,869,293
Ensembl chr 7:42,853,083...42,867,858
JBrowse link
G SLC25A44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,630,868...41,665,894
Ensembl chr 7:41,630,098...41,665,791
JBrowse link
G SLC27A3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,321,059...43,325,766
Ensembl chr 7:43,321,130...43,325,089
JBrowse link
G SLC39A1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,171,219...43,174,876
Ensembl chr 7:43,171,287...43,174,036
JBrowse link
G SLC50A1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,370,031...42,372,390
Ensembl chr 7:42,370,299...42,372,322
JBrowse link
G SMCP sperm mitochondria associated cysteine rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,694,605...61,699,122
Ensembl chr17:61,694,605...61,699,225
JBrowse link
G SMG5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,598,111...41,624,575
Ensembl chr 7:41,598,104...41,624,575
JBrowse link
G SNAPIN SNAP associated protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,410,554...43,411,929
Ensembl chr 7:43,410,998...43,412,323
JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,653,719...60,727,928
Ensembl chr17:60,653,732...60,724,253
JBrowse link
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,790,289...41,801,438
Ensembl chr 7:41,795,565...41,801,421
JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,910,102...41,929,020
Ensembl chr 7:41,912,920...41,929,617
JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,681,889...59,695,747
Ensembl chr17:59,681,936...59,695,746
JBrowse link
G TCHH trichohyalin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,095,132...61,102,663 JBrowse link
G TCHHL1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,077,129...61,081,240
Ensembl chr17:61,077,944...61,081,233
JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,794,937...60,807,852
Ensembl chr17:60,795,813...60,805,449
JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,327,899...42,338,177
Ensembl chr 7:42,328,592...42,338,171
JBrowse link
G THEM4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,889,245...60,924,848
Ensembl chr17:60,891,660...60,925,091
JBrowse link
G THEM5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,857,348...60,865,789
Ensembl chr17:60,857,350...60,865,579
JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,591,332...41,597,993
Ensembl chr 7:41,591,848...41,595,816
JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,234,061...60,238,950
Ensembl chr17:60,234,096...60,238,864
JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,219,239...60,222,818
Ensembl chr17:60,221,592...60,222,146
JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296
JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,345,506...42,354,667
Ensembl chr 7:42,345,523...42,354,557
JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,372,960...41,381,514 JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,580,032...60,628,422
Ensembl chr17:60,580,082...60,627,174
JBrowse link
G UBAP2L ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,973,598...43,015,007
Ensembl chr 7:42,974,092...43,010,848
JBrowse link
G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,806,185...42,813,586
Ensembl chr 7:42,806,185...42,814,747
JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,764,209...41,778,457
Ensembl chr 7:41,764,253...41,777,002
JBrowse link
G VPS45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23599270 PMID:23738510 PMID:25640679 More... NCBI chr17:59,327,781...59,402,172
Ensembl chr17:59,327,806...59,397,811
JBrowse link
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,239,299...60,252,323
Ensembl chr17:60,239,395...60,252,280
JBrowse link
G ZBTB7B zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,468,376...42,482,219
Ensembl chr 7:42,468,247...42,483,436
JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,350,753...60,359,542
Ensembl chr17:60,353,847...60,359,619
JBrowse link
severe congenital neutropenia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258
JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774
JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr20:8,333,911...8,342,429 JBrowse link
G EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr20:8,297,263...8,316,405
Ensembl chr20:8,297,274...8,315,426
JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193
JBrowse link
G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr20:8,342,622...8,355,996
Ensembl chr20:8,334,345...8,355,387
JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr20:8,356,150...8,376,175
Ensembl chr20:8,356,728...8,367,658
JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:25851723 More... NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085
JBrowse link
G PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr20:8,325,232...8,333,155
Ensembl chr20:8,328,943...8,332,954
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
JBrowse link
severe congenital neutropenia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3R colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | ClinVar Annotator: match by term: Neutropenia, severe congenital, 7, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:10449521 PMID:16199547 PMID:17576681 PMID:23604229 More... NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882
JBrowse link
severe congenital neutropenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant OMIM
ClinVar
PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr 8:13,800,275...13,837,799
Ensembl chr 8:13,677,760...13,837,722
JBrowse link
Severe Congenital Neutropenia 9, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:34115842 NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857
JBrowse link
WHIM Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR4 C-X-C motif chemokine receptor 4 ISO ClinVar Annotator: match by term: WHIM syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740
JBrowse link
WHIM syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR4 C-X-C motif chemokine receptor 4 ISO ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis OMIM
ClinVar
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,690,170...38,751,360
Ensembl chr19:38,668,527...38,751,310
JBrowse link
G LCT lactase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,571,539...38,620,567
Ensembl chr19:38,572,058...38,620,567
JBrowse link
G MCM6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,627,154...38,660,312
Ensembl chr19:38,627,183...38,660,280
JBrowse link
G MIR128-1 microRNA mir-128-1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,435,956...38,436,011 JBrowse link
G R3HDM1 R3H domain containing 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,302,731...38,501,678
Ensembl chr19:38,356,065...38,500,689
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:37,861,844...38,006,433
Ensembl chr19:37,861,804...37,963,501
JBrowse link
G UBXN4 UBX domain protein 4 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,519,778...38,568,760
Ensembl chr19:38,519,773...38,568,254
JBrowse link
G ZRANB3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,003,273...38,302,598
Ensembl chr19:37,957,421...38,301,888
JBrowse link
WHIM Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: WHIM syndrome 2 OMIM
ClinVar
PMID:24777453 PMID:25741868 NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
JBrowse link
X-linked dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES OMIM
ClinVar
PMID:871527 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303
JBrowse link
X-linked severe congenital neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,935,831...42,946,248
Ensembl chr  X:42,935,815...42,946,149
JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,180,082...41,191,579
Ensembl chr  X:41,180,250...41,191,310
JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,765,126...43,771,277
Ensembl chr  X:43,764,777...43,771,287
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,302,971...42,327,787
Ensembl chr  X:42,303,158...42,326,774
JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,206,553...42,217,607
Ensembl chr  X:42,210,804...42,216,993
JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,329,320...42,343,270
Ensembl chr  X:42,328,755...42,343,270
JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,951,030...43,041,616
Ensembl chr  X:42,949,558...43,012,122
JBrowse link
G CDK16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:40,810,107...40,822,130
Ensembl chr  X:40,810,500...40,842,700
JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,245,868...41,252,194
Ensembl chr  X:41,245,905...41,251,623
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812
JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,041,721...43,229,431
Ensembl chr  X:43,044,242...43,230,590
JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
JBrowse link
G ELK1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,256,205...41,270,656
Ensembl chr  X:41,257,482...41,270,776
JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,024,867...42,029,649
Ensembl chr  X:42,028,711...42,029,412
JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,725,101...41,734,533
Ensembl chr  X:41,725,130...41,734,378
JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303
JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:41,967,674...41,979,241
Ensembl chr  X:41,967,812...41,979,243
JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,248,121...42,266,747
Ensembl chr  X:42,248,611...42,257,286
JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,121,646...42,145,330
Ensembl chr  X:42,121,301...42,145,218
JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427
JBrowse link
G JADE3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:40,545,474...40,682,593
Ensembl chr  X:40,521,569...40,680,536
JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,111,817...42,119,939
Ensembl chr  X:42,111,837...42,118,375
JBrowse link
G LOC612524 putative protein SSX6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,676,082...41,687,062 JBrowse link
G LOC612555 MAGI family member, X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,267,054...42,269,303
Ensembl chr  X:42,266,715...42,269,300
JBrowse link
G MIR502 microRNA mir-502 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,785,601...42,785,659
Ensembl chr  X:42,785,587...42,785,666
JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,774,680...42,774,738
Ensembl chr  X:42,774,680...42,774,738
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:40,744,408...40,746,831
Ensembl chr  X:40,744,408...40,746,837
JBrowse link
G NUDT11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,916,315...43,923,410 JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,079,396...42,109,129
Ensembl chr  X:42,081,561...42,108,612
JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,030,708...42,036,363
Ensembl chr  X:41,962,524...42,036,586
JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,072,495...42,077,741
Ensembl chr  X:42,073,457...42,077,543
JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr 7:66,830,421...66,861,046 JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476
JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,763,126...41,773,892
Ensembl chr  X:41,762,692...41,779,476
JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,362,335...42,378,480
Ensembl chr  X:42,362,370...42,378,012
JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,056,660...42,060,508
Ensembl chr  X:42,056,708...42,121,818
JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,218,038...42,221,075
Ensembl chr  X:42,218,046...42,226,422
JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,276,316...42,285,428
Ensembl chr  X:42,275,900...42,285,321
JBrowse link
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:40,746,959...40,776,764
Ensembl chr  X:40,747,178...40,776,742
JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,806,072...41,809,803
Ensembl chr  X:41,806,176...41,809,481
JBrowse link
G RGN regucalcin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:40,697,292...40,715,491
Ensembl chr  X:40,698,768...40,715,490
JBrowse link
G