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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 chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15999287 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G IL1B interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:SNP: :6672G>C (human) RGD PMID:20868635 RGD:11041752 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G NQO2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 ISO associated with schizophrenia;DNA:SNPs:exons, intron:multiple
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:14617031 RGD:11073696 NCBI chr 6:2,819,422...2,844,765
Ensembl chr 6:2,928,021...2,947,304
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 chr11:67,364,012...67,514,035
Ensembl chr11:70,594,633...70,736,699
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 chr11:67,186,653...67,193,102
Ensembl chr11:70,411,031...70,416,484
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 chr11:67,763,944...67,831,728
Ensembl chr11:70,985,926...71,028,342
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 chr11:68,386,143...68,445,893
Ensembl chr11:71,605,832...71,665,476
JBrowse link
G ARRB1 arrestin beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:70,319,935...70,411,276
Ensembl chr11:73,630,276...73,654,155
JBrowse link
G ATG16L2 autophagy related 16 like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:67,893,365...67,921,794
Ensembl chr11:71,115,768...71,131,081
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 chr11:69,085,434...69,244,791 JBrowse link
G CHRDL2 chordin like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:69,769,476...69,804,480
Ensembl chr11:73,073,738...73,096,068
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 chr11:67,364,012...67,514,035
Ensembl chr11:70,594,633...70,736,699
JBrowse link
G DEFB108B defensin beta 108B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715
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 chr11:69,022,757...69,043,006
Ensembl chr11:72,330,992...72,349,858
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 chr11:68,477,579...68,674,428
Ensembl chr11:71,698,901...71,766,921
JBrowse link
G FAM86C1P family with sequence similarity 86 member C1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:7,650,245...7,656,291
Ensembl chr11:70,117,405...70,126,455
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 chr11:67,915,796...68,219,482 JBrowse link
G FOLR2 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:67,295,305...67,300,463
Ensembl chr11:70,518,931...70,524,088
JBrowse link
G FOLR3 folate receptor gamma ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:67,215,877...67,220,088
Ensembl chr11:70,439,298...70,443,479
JBrowse link
G GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:70,494,185...70,585,921
Ensembl chr11:73,796,347...73,885,996
JBrowse link
G IL18BP interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:67,078,251...67,083,043
Ensembl chr11:70,302,923...70,307,511
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:67,302,066...67,317,785
Ensembl chr11:70,527,017...70,540,846
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 chr11:69,527,663...69,540,236
Ensembl chr11:72,835,048...72,835,359
JBrowse link
G KLHL35 kelch like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:70,481,959...70,490,488
Ensembl chr11:73,784,556...73,792,345
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 chr11:67,177,580...67,183,631
Ensembl chr11:70,390,141...70,407,246
JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:69,564,555...69,566,759
Ensembl chr11:72,869,834...72,872,050
JBrowse link
G LOC100967430 leucine-rich repeat-containing protein 51 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:67,160,599...67,189,746
Ensembl chr11:70,392,081...70,412,641
JBrowse link
G LOC100974206 cytochrome c oxidase assembly factor 4 homolog, mitochondrial ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:68,950,425...68,954,597 JBrowse link
G LOC100983286 olfactory receptor 2AT4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:70,147,876...70,156,223
Ensembl chr11:73,453,301...73,454,264
JBrowse link
G LOC100994139 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:67,268,721...67,275,498
Ensembl chr11:70,492,039...70,498,665
JBrowse link
G MRPL48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:68,863,379...68,942,269
Ensembl chr11:72,173,668...72,250,129
JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:66,464,320...66,537,649
Ensembl chr11:69,735,871...69,788,953
JBrowse link
G NEU3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:70,047,878...70,070,303
Ensembl chr11:73,353,332...73,373,270
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:67,083,378...67,160,747
Ensembl chr11:70,307,847...70,384,425
JBrowse link
G P2RY2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:68,294,366...68,319,118
Ensembl chr11:71,532,958...71,534,091
JBrowse link
G P2RY6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:68,341,722...68,375,923
Ensembl chr11:71,594,250...71,595,236
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 chr11:69,333,199...69,385,012
Ensembl chr11:72,647,004...72,691,294
JBrowse link
G PAAF1 proteasomal ATPase associated factor 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:68,954,657...69,002,787
Ensembl chr11:72,262,609...72,309,997
JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:67,653,335...67,753,450
Ensembl chr11:70,875,552...70,975,322
JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:69,403,651...69,471,678
Ensembl chr11:72,715,549...72,777,824
JBrowse link
G PHOX2A paired like homeobox 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:67,317,747...67,322,850 JBrowse link
G PLEKHB1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:68,724,168...68,739,450
Ensembl chr11:72,035,823...72,052,130
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 chr11:69,665,642...69,715,879
Ensembl chr11:72,969,844...73,018,295
JBrowse link
G PPME1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:69,245,041...69,327,957
Ensembl chr11:72,551,480...72,634,439
JBrowse link
G RAB6A RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:68,751,163...68,837,324
Ensembl chr11:72,063,663...72,148,144
JBrowse link
G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:68,453,109...68,474,262
Ensembl chr11:71,673,955...71,695,103
JBrowse link
G RNF121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:67,009,574...67,078,105
Ensembl chr11:70,233,723...70,302,576
JBrowse link
G RNF169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:69,821,842...69,909,297
Ensembl chr11:73,126,127...73,207,340
JBrowse link
G RPS3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:70,460,702...70,466,909
Ensembl chr11:73,762,794...73,768,982
JBrowse link
G SERPINH1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:70,621,893...70,632,570 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 chr11:70,211,124...70,266,513
Ensembl chr11:73,515,433...73,570,410
JBrowse link
G SPCS2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:70,013,810...70,042,618
Ensembl chr11:73,319,200...73,347,960
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 chr11:67,834,011...67,873,349
Ensembl chr11:71,055,982...71,095,076
JBrowse link
G TPBGL trophoblast glycoprotein like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:70,300,350...70,303,524 JBrowse link
G UCP2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
JBrowse link
G UCP3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274
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 chr11:69,908,897...70,013,765
Ensembl chr11:73,211,501...73,319,141
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 chr11:67,364,012...67,514,035
Ensembl chr11:70,594,633...70,736,699
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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 susceptibility ISO associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) RGD PMID:19332043 RGD:11353804 NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322
JBrowse link
G FCGR3A Fc gamma receptor IIIa treatment ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chr 1:137,027,943...137,036,738 JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G ITPA inosine triphosphatase ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
JBrowse link
G MBL2 mannose binding lectin 2 disease progression
susceptibility
ISO associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:
associated with leukemia;
associated with Neoplasms;DNA:SNP,haplotyep:promoter:
RGD PMID:20930093 PMID:24453114 PMID:24819208 RGD:11530041 RGD:11530043 RGD:11530056 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
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 chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278
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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 chr19:62,811...77,897
Ensembl chr19:1,018,095...1,042,104
JBrowse link
G ABHD17A abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:875,447...883,977 JBrowse link
G ADAMTSL5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G ADAT3 adenosine deaminase tRNA specific 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:910,954...912,687
Ensembl chr19:1,890,437...1,891,748
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO Neutropenia, cyclic OMIA PMID:47249 PMID:127610 PMID:173440 PMID:336117 PMID:347941 More... NCBI chr 5:37,015,518...37,305,769
Ensembl chr 5:37,503,162...37,840,205
JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,110,419...1,161,826
Ensembl chr19:2,085,540...2,137,593
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G ARHGAP45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:41,207...61,193 JBrowse link
G ARID3A AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:157,094...207,676 JBrowse link
G ATP5F1D ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G ATP8B3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:779,958...810,455
Ensembl chr19:1,761,992...1,791,878
JBrowse link
G AZU1 azurocidin 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:300,318...304,730
Ensembl chr19:797,038...800,691
JBrowse link
G BTBD2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G C19H19orf25 chromosome 19 C19orf25 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G CBARP CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:1,212,854...1,220,104 JBrowse link
G CFD complement factor D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G CIRBP cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G CNN2 calponin 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:40,502,394...40,504,543 JBrowse link
G CSNK1G2 casein kinase 1 gamma 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G DAZAP1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:1,391,764...1,408,254 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 chr19:276,499...280,598 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 chr19:494,172...499,003
Ensembl chr19:606,120...611,501
JBrowse link
G FSTL3 follistatin like 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:1,371,312...1,375,461 JBrowse link
G GPX4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:20,904...23,828 JBrowse link
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:975,872...982,757 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 chr19:521,348...528,203 JBrowse link
G IZUMO4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,106,258...1,109,009
Ensembl chr19:2,080,205...2,082,944
JBrowse link
G KISS1R KISS1 receptor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:211,563...215,332 JBrowse link
G KLF16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:850,840...862,130 JBrowse link
G LOC100970584 cytochrome b-c1 complex subunit 10 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G MBD3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:1,549,184...1,559,254 JBrowse link
G MED16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:238,822...260,277
Ensembl chr19:841,367...863,080
JBrowse link
G MEX3D mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G MIDN midnolin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G MISP mitotic spindle positioning ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:369,238...383,633
Ensembl chr19:717,766...731,942
JBrowse link
G MKNK2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,045,316...1,059,023
Ensembl chr19:2,018,822...2,032,429
JBrowse link
G MOB3A MOB kinase activator 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,080,455...1,106,215
Ensembl chr19:2,053,856...2,068,807
JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:1,357,389...1,369,539 JBrowse link
G ONECUT3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:750,413...773,295 JBrowse link
G PALM paralemmin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:386,417...427,178
Ensembl chr19:693,853...713,465
JBrowse link
G PCSK4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:1,452,924...1,466,438 JBrowse link
G PLK5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:1,497,953...1,505,995 JBrowse link
G PLPPR3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:309,998...319,779 JBrowse link
G POLR2E RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:32,263...41,992
Ensembl chr19:1,065,421...1,073,379
JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:504,823...521,281
Ensembl chr19:584,219...599,783
JBrowse link
G PRSS57 serine protease 57 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:440,415...452,535 JBrowse link
G PRTN3 proteinase 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:283,314...291,504 JBrowse link
G PTBP1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:319,953...334,945 JBrowse link
G PWWP3A PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:1,331,312...1,352,260 JBrowse link
G R3HDM4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:219,000...235,541
Ensembl chr19:868,192...877,925
JBrowse link
G REEP6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:1,467,186...1,473,988 JBrowse link
G REXO1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:813,643...847,137
Ensembl chr19:1,796,434...1,813,387
JBrowse link
G RNF126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:614,236...618,659 JBrowse link
G RPS15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G SBNO2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:3,032...20,063
Ensembl chr19:1,086,968...1,136,272
JBrowse link
G SCAMP4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:914,220...925,244
Ensembl chr19:1,893,577...1,904,452
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:1,188,537...1,210,677 JBrowse link
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:1,582,297...1,622,025 JBrowse link
G TMEM259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr19:983,507...994,212 JBrowse link
G WDR18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:138,554...150,026
Ensembl chr19:957,937...967,559
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 Graves Disease;
associated with Multiple Myeloma;
RGD PMID:8935143 PMID:15785251 RGD:11039034 RGD:11039041 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G IL1B interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO associated with Leukemia;protein:decreased expression:serum: RGD PMID:8698137 RGD:11528539 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G NAT2 N-acetyltransferase 2 ISO associated with Inflammation; RGD PMID:10739170 RGD:11532771 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
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 Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
Breast Neoplasms;DNA:SNP: :3435 C>T(human)
RGD PMID:17534875 PMID:22271208 PMID:25007187 RGD:11080964 RGD:11080979 RGD:11081001 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 no_association
susceptibility
ISO associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295 PMID:23188068 RGD:11080980 RGD:11080999 NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO associated with Leukemia, Hairy Cell;
associated with Hepatitis C, Chronic;
RGD PMID:2461131 PMID:17660602 RGD:11039035 RGD:11039036 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G CYP2C8 cytochrome P450 family 2 subfamily C member 8 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: : RGD PMID:21702053 RGD:11353800 NCBI chr10:91,646,387...91,679,998
Ensembl chr10:95,157,661...95,186,620
JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: :
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human)
RGD PMID:19332043 PMID:21702053 RGD:11353800 RGD:11353804 NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322
JBrowse link
G DPYD dihydropyrimidine dehydrogenase treatment
no_association
ISO DNA:splice-site mutation, missense mutations: :multiple
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)
associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)
associated with Neoplasms;DNA:missense mutations: :multiple
RGD PMID:11156223 PMID:12209976 PMID:19473056 PMID:23942539 RGD:11098817 RGD:11251736 RGD:11251737 RGD:11251738 NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100
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 chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
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 chr10:44,703,720...44,784,948 JBrowse link
G FCGR3A Fc gamma receptor IIIa ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)
associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)
associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
RGD PMID:19933905 PMID:20730791 PMID:21883784 RGD:11344964 RGD:11344973 RGD:11352256 NCBI chr 1:137,027,943...137,036,738 JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G IL1A interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO RGD PMID:27400856 RGD:14928329 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100976982 solute carrier organic anion transporter family member 1B3 susceptibility
no_association
ISO associated with neoplasm;DNA:SNP:rs11045585(human)
associated with neoplasm;DNA:SNP: rs11045585(human)
RGD PMID:18294295 PMID:23188068 RGD:11080980 RGD:11080999 NCBI chr12:65,386,042...65,492,240 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 chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278
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 chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611
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 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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 chr11:113,882,418...113,895,438
Ensembl chr11:117,812,975...117,824,005
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 4:4,487,054...4,516,732
Ensembl chr 4:9,805,164...9,848,032
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 chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr16:69,994,926...70,242,659
Ensembl chr16:89,633,849...89,683,311
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO RGD PMID:12125811 RGD:1578409 NCBI chr 5:37,015,518...37,305,769
Ensembl chr 5:37,503,162...37,840,205
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr  X:143,870,421...143,878,288
Ensembl chr  X:153,740,751...153,748,621
JBrowse link
G C16H16orf92 chromosome 16 C16orf92 homolog ISO ClinVar Annotator: match by term: Neutropenia ClinVar Ensembl chr16:30,398,743...30,399,615 JBrowse link
G C5 complement C5 ISO RGD PMID:10188960 PMID:10516626 RGD:1600665 RGD:5130180 NCBI chr 9:92,069,574...92,202,513
Ensembl chr 9:120,426,354...120,523,856
JBrowse link
G C5AR1 complement C5a receptor 1 ISO RGD PMID:10516626 RGD:5130180 NCBI chr19:44,293,612...44,310,430
Ensembl chr19:52,950,317...52,966,146
JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr  X:143,138,574...143,149,824 JBrowse link
G CFB complement factor B ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 6:31,606,716...31,612,782 JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:122,595,246...122,720,788
Ensembl chr 1:112,809,274...112,862,219
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 chr11:67,364,012...67,514,035
Ensembl chr11:70,594,633...70,736,699
JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:7875148 PMID:10832225 PMID:11264156 RGD:10449510 NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:7524159 PMID:7529132 PMID:7543699 PMID:7688884 PMID:9740541 More... RGD:11039039 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12562666 NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100
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 chr19:276,499...280,598 JBrowse link
G EPHX1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581
JBrowse link
G FCGR2B Fc gamma receptor IIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637
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 1:95,139,171...95,151,054
Ensembl chr 1:93,876,245...93,883,528
JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 PMID:32581362 NCBI chr 1:129,627,564...129,630,920
Ensembl chr 1:133,241,077...133,244,431
JBrowse link
G HOXD13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr2B:63,372,517...63,375,731 JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G ITGAM integrin subunit alpha M ISO associated with Brain Contusion RGD PMID:8835801 RGD:329901911 NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
JBrowse link
G JAGN1 jagunal homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129144 PMID:25129145 NCBI chr 3:9,835,123...9,838,398
Ensembl chr 3:10,183,760...10,187,064
JBrowse link
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr2B:32,594,330...32,637,697
Ensembl chr2B:128,304,799...128,347,951
JBrowse link
G LOC100972354 interferon alpha-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1670585 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
JBrowse link
G LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a ISO DNA:SNP:cds:p.R131H (human) RGD PMID:11295474 RGD:11040988 NCBI chr 1:136,892,311...136,906,450 JBrowse link
G MAGEC1 MAGE family member C1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr  X:131,056,635...131,062,120 JBrowse link
G MKI67 marker of proliferation Ki-67 ISO protein:increased expression:blood, T cell RGD PMID:22092365 RGD:6483522 NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19391036 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MUC16 mucin 16, cell surface associated ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr19:8,416,393...8,568,418 JBrowse link
G NUP98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr11:3,553,379...3,669,367
Ensembl chr11:3,661,568...3,767,443
JBrowse link
G PKP3 plakophilin 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr11:393,047...402,928
Ensembl chr11:433,326...441,325
JBrowse link
G POLR3C RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:121,917,371...121,935,976
Ensembl chr 1:113,733,846...113,752,486
JBrowse link
G PTAFR platelet activating factor receptor treatment ISO RGD PMID:3011900 RGD:10043179 NCBI chr 1:27,405,880...27,436,184
Ensembl chr 1:28,447,833...28,448,861
JBrowse link
G RNF128 ring finger protein 128 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr  X:95,796,407...95,898,023
Ensembl chr  X:106,174,269...106,275,992
JBrowse link
G RPS14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 5:145,869,410...145,875,038
Ensembl chr 5:151,873,605...151,879,128
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
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 chr17:57,911,612...57,922,461
Ensembl chr17:63,055,968...63,068,861
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 chr12:32,555,523...32,574,137
Ensembl chr12:32,808,586...32,827,732
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 chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G TLE2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr19:2,023,018...2,055,317
Ensembl chr19:2,972,618...3,004,565
JBrowse link
G TMEM63A transmembrane protein 63A ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:201,306,608...201,344,627
Ensembl chr 1:206,307,554...206,343,458
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:15986200 RGD:1580321 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
JBrowse link
G TPMT thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18662289 NCBI chr 6:17,977,544...18,002,839
Ensembl chr 6:18,330,000...18,355,157
JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr15:42,450,782...42,541,162
Ensembl chr15:60,746,406...60,830,535
JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr20:2,931,553...2,956,604
Ensembl chr20:2,695,335...2,720,030
JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 8:140,188,041...140,294,113
Ensembl chr 8:143,203,325...143,310,210
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 1:95,139,171...95,151,054
Ensembl chr 1:93,876,245...93,883,528
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 chr16:38,277,987...38,300,863
Ensembl chr16:57,408,841...57,430,665
JBrowse link
Severe Chronic Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3R colony stimulating factor 3 receptor ISO RGD PMID:9639496 RGD:10450484 NCBI chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612
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 chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612
JBrowse link
G ELANE elastase, neutrophil expressed ISO mRNA:decreased expression:myeloid CD33+ cell:
DNA:mutations: :
DNA:mutation:intron:c.597+1G>A (human)
RGD PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599 RGD:10450514 RGD:10450519 RGD:10450525 RGD:1598891 NCBI chr19:276,499...280,598 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 chr19:17,230,202...17,271,133
Ensembl chr19:18,213,869...18,245,725
JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chr17:13,320,104...13,326,112
Ensembl chr17:13,481,473...13,492,789
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 1:95,139,171...95,151,054
Ensembl chr 1:93,876,245...93,883,528
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 1:129,627,564...129,630,920
Ensembl chr 1:133,241,077...133,244,431
JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:25129144 PMID:25741868 PMID:25851723 PMID:28492532 PMID:30044346 More... NCBI chr 3:9,835,123...9,838,398
Ensembl chr 3:10,183,760...10,187,064
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 chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327
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 chr19:276,499...280,598 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 chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:16648375 PMID:25741868 PMID:28492532 NCBI chr 8:95,659,443...96,525,316
Ensembl chr 8:97,860,720...98,698,271
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 chr17:70,019,383...70,028,689
Ensembl chr17:75,578,072...75,580,806
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 chr17:69,985,207...70,019,313
Ensembl chr17:75,539,484...75,573,436
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 chr 3:125,091,916...125,111,238
Ensembl chr 3:132,457,005...132,476,935
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 chr11:67,364,012...67,514,035
Ensembl chr11:70,594,633...70,736,699
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 1:95,507,241...95,631,286
Ensembl chr 1:94,232,632...94,275,864
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 1:95,172,856...95,457,699
Ensembl chr 1:93,913,903...94,192,131
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 1:95,139,171...95,151,054
Ensembl chr 1:93,876,245...93,883,528
JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:95,497,047...95,507,006
Ensembl chr 1:94,230,451...94,241,522
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 1:130,398,961...130,410,860
Ensembl chr 1:134,008,959...134,020,467
JBrowse link
G ADAMTSL4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,893,739...125,905,337
Ensembl chr 1:129,541,795...129,553,376
JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 1:129,937,993...129,983,747 JBrowse link
G ANP32E acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,563,953...125,581,396
Ensembl chr 1:129,220,730...129,233,218
JBrowse link
G ANXA9 annexin A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,331,255...126,345,056
Ensembl chr 1:129,979,652...129,993,456
JBrowse link
G APH1A aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,610,649...125,614,261
Ensembl chr 1:129,262,002...129,265,810
JBrowse link
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 1:129,677,969...129,682,681
Ensembl chr 1:133,291,027...133,295,265
JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629
JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,679,868...130,906,918
Ensembl chr 1:134,286,761...134,468,722
JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 1:129,682,886...129,708,702
Ensembl chr 1:133,295,437...133,319,167
JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,985,310...132,003,068
Ensembl chr 1:135,808,783...135,826,344
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432
JBrowse link
G BNIPL BCL2 interacting protein like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,385,651...126,396,697 JBrowse link
G C1H1orf43 chromosome 1 C1orf43 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 1:129,562,110...129,575,866 JBrowse link
G C1H1orf54 chromosome 1 C1orf54 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,614,337...125,626,216
Ensembl chr 1:129,269,073...129,277,135
JBrowse link
G C1H1orf56 chromosome 1 C1orf56 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,396,829...126,400,540
Ensembl chr 1:130,044,491...130,048,187
JBrowse link
G C2CD4D C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,196,449...127,197,682 JBrowse link
G CA14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,602,521...125,610,323
Ensembl chr 1:129,253,787...129,261,676
JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,652,058...131,679,802
Ensembl chr 1:135,481,427...135,508,983
JBrowse link
G CDC42SE1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,400,094...126,408,769
Ensembl chr 1:130,047,765...130,056,447
JBrowse link
G CELF3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,060,330...127,075,106
Ensembl chr 1:130,701,452...130,718,578
JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,314,483...126,324,312
Ensembl chr 1:129,962,022...129,972,722
JBrowse link
G CFAP141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 1:129,554,502...129,562,071
Ensembl chr 1:133,168,973...133,175,964
JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,869,973...126,897,024 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 1:129,922,740...129,931,582
Ensembl chr 1:133,535,023...133,547,361
JBrowse link
G CHTOP chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,989,920...129,002,242
Ensembl chr 1:132,617,934...132,630,654
JBrowse link
G CIART circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,627,812...125,632,367
Ensembl chr 1:129,278,742...129,283,271
JBrowse link
G CKS1B CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,323,170...130,327,762
Ensembl chr 1:133,932,899...133,937,491
JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,607,877...130,618,461
Ensembl chr 1:134,213,237...134,221,288
JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:132,043,097...132,049,366
Ensembl chr 1:135,864,807...135,870,145
JBrowse link
G CRCT1 cysteine rich C-terminal 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,850,640...127,853,444
Ensembl chr 1:131,482,981...131,483,295
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 1:129,324,479...129,331,204
Ensembl chr 1:132,953,062...132,959,696
JBrowse link
G CRNN cornulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,743,094...127,748,737 JBrowse link
G CTSK cathepsin K ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,146,555...126,158,662
Ensembl chr 1:129,795,966...129,808,316
JBrowse link
G CTSS cathepsin S ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,084,249...126,118,221
Ensembl chr 1:129,733,996...129,768,318
JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,024,977...131,072,860
Ensembl chr 1:134,876,063...134,905,280
JBrowse link
G DCST1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,381,851...130,398,975
Ensembl chr 1:133,991,485...134,008,614
JBrowse link
G DCST2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,366,692...130,382,001 JBrowse link
G DENND4B DENN domain containing 4B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:129,286,076...129,303,279
Ensembl chr 1:132,914,514...132,929,906
JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,487,584...130,488,330
Ensembl chr 1:134,096,219...134,096,587
JBrowse link
G ECM1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,853,337...125,858,904
Ensembl chr 1:129,502,041...129,507,819
JBrowse link
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,475,128...130,482,531
Ensembl chr 1:134,083,855...134,091,228
JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,426,910...130,435,628
Ensembl chr 1:134,036,490...134,045,213
JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,410,991...130,417,593
Ensembl chr 1:134,021,405...134,027,212
JBrowse link
G ENSA endosulfine alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,973,344...125,980,839
Ensembl chr 1:129,599,495...129,629,779
JBrowse link
G ENTREP3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,592,215...130,600,884
Ensembl chr 1:134,197,555...134,205,476
JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,331,795...130,341,279
Ensembl chr 1:133,941,665...133,950,399
JBrowse link
G FLG filaggrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,634,416...127,649,659 JBrowse link
G GABPB2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,419,892...126,479,691
Ensembl chr 1:130,084,854...130,114,493
JBrowse link
G GATAD2B GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:129,161,151...129,279,702
Ensembl chr 1:132,794,458...132,813,108
JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,635,614...131,638,610
Ensembl chr 1:135,465,671...135,468,666
JBrowse link
G GOLPH3L golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,002,787...126,053,672
Ensembl chr 1:129,652,118...129,703,379
JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,084,009...131,193,884
Ensembl chr 1:134,917,791...135,020,042
JBrowse link
G HAPLN2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,962,801...131,969,331
Ensembl chr 1:135,785,754...135,792,652
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 1:129,627,564...129,630,920
Ensembl chr 1:133,241,077...133,244,431
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 1:130,621,991...130,634,402
Ensembl chr 1:134,227,404...134,240,120
JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:132,085,446...132,110,214
Ensembl chr 1:135,907,119...135,917,607
JBrowse link
G HORMAD1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,054,585...126,077,361
Ensembl chr 1:129,704,451...129,726,691
JBrowse link
G HRNR hornerin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,570,653...127,583,285 JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
JBrowse link
G ILF2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:129,018,622...129,027,550
Ensembl chr 1:132,647,296...132,656,361
JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:132,183,963...132,195,267
Ensembl chr 1:136,005,458...136,024,374
JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:129,084,681...129,130,669
Ensembl chr 1:132,714,200...132,759,842
JBrowse link
G IQGAP3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,869,002...131,916,554
Ensembl chr 1:135,695,602...135,740,564
JBrowse link
G ISG20L2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:132,064,860...132,071,722
Ensembl chr 1:135,887,702...135,892,908
JBrowse link
G IVL involucrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,254,139...128,256,893 JBrowse link
G JTB jumping translocation breakpoint ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:129,331,335...129,334,873
Ensembl chr 1:132,959,843...132,963,865
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 1:130,052,903...130,218,977
Ensembl chr 1:133,666,876...133,828,366
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 1:131,246,577...131,268,296
Ensembl chr 1:135,076,831...135,097,760
JBrowse link
G KPLCE KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,064,008...128,064,950
Ensembl chr 1:131,694,686...131,695,438
JBrowse link
G KPRP keratinocyte proline rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,102,434...128,106,461
Ensembl chr 1:131,734,572...131,736,311
JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,517,075...130,526,621
Ensembl chr 1:134,125,272...134,129,527
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 1:131,396,937...131,400,695
Ensembl chr 1:135,226,400...135,230,167
JBrowse link
G LCE1A late cornified envelope 1A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 Ensembl chr 1:131,803,002...131,803,334 JBrowse link
G LCE1B late cornified envelope 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 Ensembl chr 1:131,787,453...131,787,809 JBrowse link
G LCE3A late cornified envelope 3A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,957,291...127,957,560
Ensembl chr 1:131,588,158...131,588,427
JBrowse link
G LCE3B late cornified envelope 3B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,948,218...127,948,505
Ensembl chr 1:131,579,085...131,579,372
JBrowse link
G LCE3C late cornified envelope 3C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,934,426...127,935,482
Ensembl chr 1:131,565,992...131,566,276
JBrowse link
G LCE4A late cornified envelope 4A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,053,534...128,053,844 JBrowse link
G LCE6A late cornified envelope 6A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,187,490...128,188,665
Ensembl chr 1:131,818,696...131,818,938
JBrowse link
G LELP1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,546,313...128,548,024 JBrowse link
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,341,395...130,342,409
Ensembl chr 1:133,950,896...133,951,081
JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,154,152...127,164,591
Ensembl chr 1:130,803,557...130,805,338
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G LOC100968601 small proline-rich protein 2F ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,454,540...128,454,965 JBrowse link
G LOC100970788 small proline-rich protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,344,876...128,346,965
Ensembl chr 1:131,976,194...131,976,679
JBrowse link
G LOC100972613 G patch domain-containing protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,938,622...131,945,524
Ensembl chr 1:135,760,273...135,768,573
JBrowse link
G LOC100976458 zinc transporter ZIP1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:129,304,237...129,315,484
Ensembl chr 1:132,944,346...132,952,951
Ensembl chr 1:132,944,346...132,952,951
JBrowse link
G LOC100977130 tropomyosin alpha-3 chain ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 1:129,511,914...129,538,703
Ensembl chr 1:133,126,641...133,161,894
JBrowse link
G LOC100983642 putative uncharacterized protein RUSC1-AS1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,662,834...130,668,707 JBrowse link
G LOC100987557 metaxin-1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,553,631...130,558,744 JBrowse link
G LOC100988711 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,079,871...131,084,486 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,607,506...128,608,808 JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,508,575...126,515,165
Ensembl chr 1:130,157,237...130,163,752
JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,918,760...125,923,952
Ensembl chr 1:129,566,827...129,572,086
JBrowse link
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,806,705...131,844,420
Ensembl chr 1:135,637,801...135,653,866
JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:132,071,430...132,080,297
Ensembl chr 1:135,892,971...135,901,981
JBrowse link
G MEX3A mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,414,225...131,424,680
Ensembl chr 1:135,247,776...135,254,034
JBrowse link
G MINDY1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,346,260...126,356,992
Ensembl chr 1:129,994,561...130,006,066
JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,408,533...126,417,624 JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:132,080,651...132,084,541
Ensembl chr 1:135,902,324...135,906,245
JBrowse link
G MRPL9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,118,183...127,122,065
Ensembl chr 1:130,761,826...130,766,349
JBrowse link
G MRPS21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,639,064...125,653,722
Ensembl chr 1:129,289,680...129,304,596
JBrowse link
G MTMR11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,273,431...125,281,903
Ensembl chr 1:128,929,631...128,937,890
JBrowse link
G MUC1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,935,295...131,937,843
Ensembl chr 1:135,758,868...135,761,416
JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:132,012,273...132,020,907
Ensembl chr 1:135,835,456...135,844,094
JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:129,034,972...129,050,439
Ensembl chr 1:132,664,948...132,679,327
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 Ensembl chr 1:136,007,476...136,047,355 JBrowse link
G NUP210L nucleoporin 210 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 1:129,349,468...129,510,688
Ensembl chr 1:132,977,876...133,125,344
JBrowse link
G OAZ3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,121,375...127,129,940
Ensembl chr 1:130,765,290...130,773,859
JBrowse link
G OTUD7B OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,282,599...125,355,441
Ensembl chr 1:128,944,782...128,976,474
JBrowse link
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,586,557...131,591,263
Ensembl chr 1:135,416,530...135,421,662
JBrowse link
G PBXIP1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,292,611...130,304,667 JBrowse link
G PGLYRP3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,642,034...128,656,082
Ensembl chr 1:132,270,957...132,283,860
JBrowse link
G PGLYRP4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,681,726...128,700,275
Ensembl chr 1:132,310,256...132,329,013
JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,653,794...126,689,690
Ensembl chr 1:130,300,844...130,336,311
JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,547,793...126,598,618
Ensembl chr 1:130,195,974...130,246,198
JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
JBrowse link
G PLEKHO1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,494,740...125,504,990
Ensembl chr 1:129,146,459...129,157,401
JBrowse link
G PMF1 polyamine modulated factor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,556,843...131,583,180 JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818
JBrowse link
G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,761,777...126,818,262
Ensembl chr 1:130,407,426...130,463,909
JBrowse link
G PRCC proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:132,110,795...132,144,039
Ensembl chr 1:135,933,269...135,966,483
JBrowse link
G PRPF3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,666,604...125,698,591
Ensembl chr 1:129,320,605...129,348,214
JBrowse link
G PRR9 proline rich 9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,560,477...128,562,199 JBrowse link
G PRUNE1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,357,779...126,385,120
Ensembl chr 1:130,006,097...130,032,985
JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,758,604...126,760,989
Ensembl chr 1:130,404,234...130,406,638
JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,603,753...126,616,553
Ensembl chr 1:130,251,323...130,264,256
JBrowse link
G PYGO2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,305,547...130,310,270
Ensembl chr 1:133,912,411...133,920,308
JBrowse link
G RAB13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:129,338,524...129,343,234
Ensembl chr 1:132,967,363...132,972,067
JBrowse link
G RAB25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,403,058...131,412,722
Ensembl chr 1:135,232,544...135,241,732
JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,699,772...126,706,486
Ensembl chr 1:130,345,977...130,352,317
JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,710,282...131,728,487
Ensembl chr 1:135,538,519...135,555,803
JBrowse link
G RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,069,400...127,087,588
Ensembl chr 1:130,716,270...130,731,287
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942
JBrowse link
G RORC RAR related orphan receptor C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,164,725...127,190,479
Ensembl chr 1:130,808,705...130,834,490
JBrowse link
G RPRD2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,709,535...125,821,872
Ensembl chr 1:129,359,202...129,469,899
JBrowse link
G RPS27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 1:129,347,650...129,349,050
Ensembl chr 1:132,975,795...132,977,192
JBrowse link
G RPTN repetin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,512,265...127,518,017 JBrowse link
G RUSC1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,665,390...130,675,635
Ensembl chr 1:134,270,420...134,280,592
JBrowse link
G RXFP4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,275,631...131,279,593
Ensembl chr 1:135,106,884...135,108,008
JBrowse link
G S100A1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,984,296...128,987,979 JBrowse link
G S100A10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,341,974...127,353,054
Ensembl chr 1:130,985,312...130,995,130
JBrowse link
G S100A11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,391,695...127,396,231
Ensembl chr 1:131,034,588...131,035,882
JBrowse link
G S100A12 S100 calcium binding protein A12 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,725,102...128,727,021
Ensembl chr 1:132,354,132...132,356,085
JBrowse link
G S100A13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,973,910...128,984,234
Ensembl chr 1:132,602,772...132,616,373
JBrowse link
G S100A14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,969,353...128,972,484
Ensembl chr 1:132,597,623...132,600,360
JBrowse link
G S100A16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,961,978...128,968,230
Ensembl chr 1:132,590,360...132,592,827
JBrowse link
G S100A2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,916,535...128,942,052
Ensembl chr 1:132,545,370...132,550,083
JBrowse link
G S100A3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,902,495...128,904,247
Ensembl chr 1:132,531,579...132,533,508
JBrowse link
G S100A4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,898,765...128,901,042
Ensembl chr 1:132,527,846...132,530,122
JBrowse link
G S100A5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,892,317...128,896,879
Ensembl chr 1:132,521,394...132,525,991
JBrowse link
G S100A6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,889,749...128,891,425
Ensembl chr 1:132,518,834...132,520,499
JBrowse link
G S100A8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,741,378...128,742,520
Ensembl chr 1:132,370,435...132,371,591
JBrowse link
G S100A9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,709,175...128,712,461
Ensembl chr 1:132,338,246...132,341,497
JBrowse link
G SCAMP3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,601,017...130,607,373
Ensembl chr 1:134,206,577...134,212,800
JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,723,445...126,731,852
Ensembl chr 1:130,369,065...130,377,419
JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,489,446...131,519,864
Ensembl chr 1:135,321,288...135,350,724
JBrowse link
G SEMA6C semaphorin 6C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,480,899...126,496,032
Ensembl chr 1:130,128,185...130,138,458
JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,275,719...126,314,043
Ensembl chr 1:129,925,009...129,962,442
JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,268,113...125,273,405
Ensembl chr 1:128,924,317...128,929,610
JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:132,149,450...132,160,280
Ensembl chr 1:135,972,824...135,981,754
JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008
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 1:129,834,422...129,857,317
Ensembl chr 1:133,446,417...133,469,841
JBrowse link
G SLC25A44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,535,399...131,556,750
Ensembl chr 1:135,366,049...135,387,643
JBrowse link
G SLC27A3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:129,131,843...129,136,746
Ensembl chr 1:132,759,952...132,765,194
JBrowse link
G SLC50A1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,483,056...130,486,534
Ensembl chr 1:134,092,045...134,095,233
JBrowse link
G SMCP sperm mitochondria associated cysteine rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,222,932...128,229,417
Ensembl chr 1:131,859,238...131,859,588
JBrowse link
G SMG5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,592,368...131,634,443
Ensembl chr 1:135,422,268...135,455,734
JBrowse link
G SNAPIN SNAP associated protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:129,014,668...129,018,428
Ensembl chr 1:132,644,320...132,647,095
JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,968,370...127,052,942
Ensembl chr 1:130,612,787...130,695,863
JBrowse link
G SPRR1B small proline rich protein 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,374,301...128,375,993
Ensembl chr 1:132,005,471...132,005,740
JBrowse link
G SPRR2G small proline rich protein 2G ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,492,168...128,606,586 JBrowse link
G SPRR4 small proline rich protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:128,312,047...128,315,258
Ensembl chr 1:131,944,611...131,944,856
JBrowse link
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,349,072...131,361,008 JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,193,999...131,218,752
Ensembl chr 1:135,026,032...135,046,943
JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,832,693...125,852,918
Ensembl chr 1:129,480,824...129,501,639
JBrowse link
G TCHH trichohyalin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,464,436...127,472,690 JBrowse link
G TCHHL1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,442,837...127,447,753
Ensembl chr 1:131,085,544...131,090,456
JBrowse link
G TDRD10 tudor domain containing 10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 1:129,857,124...129,903,134
Ensembl chr 1:133,469,613...133,515,193
JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,128,857...127,149,197
Ensembl chr 1:130,774,515...130,792,942
JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,540,486...130,553,534
Ensembl chr 1:134,148,468...134,160,245
JBrowse link
G THEM4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,229,378...127,268,884
Ensembl chr 1:130,876,364...130,912,751
JBrowse link
G THEM5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:127,205,721...127,212,112
Ensembl chr 1:130,849,815...130,856,523
JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,625,864...131,635,370
Ensembl chr 1:135,455,766...135,465,426
JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,519,159...126,525,502
Ensembl chr 1:130,167,570...130,173,663
JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,504,849...126,508,578
Ensembl chr 1:130,156,187...130,156,741
JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,521,472...130,532,636
Ensembl chr 1:134,129,984...134,142,362
JBrowse link
G TSACC TSSK6 activating cochaperone ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,679,671...131,709,720
Ensembl chr 1:135,509,160...135,516,912
JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,925,121...131,931,589
Ensembl chr 1:135,747,196...135,754,227
JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,898,611...126,941,893
Ensembl chr 1:130,543,043...130,586,147
JBrowse link
G UBAP2L ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 1:129,575,115...129,626,565
Ensembl chr 1:133,189,194...133,240,090
JBrowse link
G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 1:129,904,971...129,913,640
Ensembl chr 1:133,515,618...133,525,390
JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,374,635...131,395,986
Ensembl chr 1:135,209,490...135,225,666
JBrowse link
G VHLL VHL like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:131,641,713...131,642,132 JBrowse link
G VPS45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:125,412,566...125,490,615
Ensembl chr 1:129,063,462...129,142,990
JBrowse link
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,525,642...126,539,432
Ensembl chr 1:130,174,051...130,187,785
JBrowse link
G YY1AP1 YY1 associated protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,995,949...131,024,985
Ensembl chr 1:134,594,908...134,623,588
JBrowse link
G ZBTB7B zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:130,350,798...130,366,690
Ensembl chr 1:133,959,847...133,975,729
JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 1:126,643,627...126,654,154
Ensembl chr 1:130,294,126...130,300,949
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 chr17:13,320,104...13,326,112
Ensembl chr17:13,481,473...13,492,789
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 1:130,398,961...130,410,860
Ensembl chr 1:134,008,959...134,020,467
JBrowse link
G ADAMTSL4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,893,739...125,905,337
Ensembl chr 1:129,541,795...129,553,376
JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,937,993...129,983,747 JBrowse link
G ANP32E acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,563,953...125,581,396
Ensembl chr 1:129,220,730...129,233,218
JBrowse link
G ANXA9 annexin A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,331,255...126,345,056
Ensembl chr 1:129,979,652...129,993,456
JBrowse link
G APH1A aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,610,649...125,614,261
Ensembl chr 1:129,262,002...129,265,810
JBrowse link
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,677,969...129,682,681
Ensembl chr 1:133,291,027...133,295,265
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 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629
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 1:130,679,868...130,906,918
Ensembl chr 1:134,286,761...134,468,722
JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,682,886...129,708,702
Ensembl chr 1:133,295,437...133,319,167
JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,985,310...132,003,068
Ensembl chr 1:135,808,783...135,826,344
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432
JBrowse link
G BNIPL BCL2 interacting protein like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,385,651...126,396,697 JBrowse link
G C1H1orf43 chromosome 1 C1orf43 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,562,110...129,575,866 JBrowse link
G C1H1orf54 chromosome 1 C1orf54 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,614,337...125,626,216
Ensembl chr 1:129,269,073...129,277,135
JBrowse link
G C1H1orf56 chromosome 1 C1orf56 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,396,829...126,400,540
Ensembl chr 1:130,044,491...130,048,187
JBrowse link
G C2CD4D C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,196,449...127,197,682 JBrowse link
G CA14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,602,521...125,610,323
Ensembl chr 1:129,253,787...129,261,676
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 1:131,652,058...131,679,802
Ensembl chr 1:135,481,427...135,508,983
JBrowse link
G CDC42SE1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,400,094...126,408,769
Ensembl chr 1:130,047,765...130,056,447
JBrowse link
G CELF3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,060,330...127,075,106
Ensembl chr 1:130,701,452...130,718,578
JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,314,483...126,324,312
Ensembl chr 1:129,962,022...129,972,722
JBrowse link
G CFAP141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,554,502...129,562,071
Ensembl chr 1:133,168,973...133,175,964
JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,869,973...126,897,024 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 1:129,922,740...129,931,582
Ensembl chr 1:133,535,023...133,547,361
JBrowse link
G CHTOP chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,989,920...129,002,242
Ensembl chr 1:132,617,934...132,630,654
JBrowse link
G CIART circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,627,812...125,632,367
Ensembl chr 1:129,278,742...129,283,271
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 1:130,323,170...130,327,762
Ensembl chr 1:133,932,899...133,937,491
JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,607,877...130,618,461
Ensembl chr 1:134,213,237...134,221,288
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 1:132,043,097...132,049,366
Ensembl chr 1:135,864,807...135,870,145
JBrowse link
G CRCT1 cysteine rich C-terminal 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,850,640...127,853,444
Ensembl chr 1:131,482,981...131,483,295
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 1:129,324,479...129,331,204
Ensembl chr 1:132,953,062...132,959,696
JBrowse link
G CRNN cornulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,743,094...127,748,737 JBrowse link
G CTSK cathepsin K ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,146,555...126,158,662
Ensembl chr 1:129,795,966...129,808,316
JBrowse link
G CTSS cathepsin S ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,084,249...126,118,221
Ensembl chr 1:129,733,996...129,768,318
JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,024,977...131,072,860
Ensembl chr 1:134,876,063...134,905,280
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 1:130,381,851...130,398,975
Ensembl chr 1:133,991,485...134,008,614
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 1:130,366,692...130,382,001 JBrowse link
G DENND4B DENN domain containing 4B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,286,076...129,303,279
Ensembl chr 1:132,914,514...132,929,906
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 1:130,487,584...130,488,330
Ensembl chr 1:134,096,219...134,096,587
JBrowse link
G ECM1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,853,337...125,858,904
Ensembl chr 1:129,502,041...129,507,819
JBrowse link
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,475,128...130,482,531
Ensembl chr 1:134,083,855...134,091,228
JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,426,910...130,435,628
Ensembl chr 1:134,036,490...134,045,213
JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,410,991...130,417,593
Ensembl chr 1:134,021,405...134,027,212
JBrowse link
G ENSA endosulfine alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,973,344...125,980,839
Ensembl chr 1:129,599,495...129,629,779
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 1:130,592,215...130,600,884
Ensembl chr 1:134,197,555...134,205,476
JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
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 1:130,331,795...130,341,279
Ensembl chr 1:133,941,665...133,950,399
JBrowse link
G FLG filaggrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,634,416...127,649,659 JBrowse link
G GABPB2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,419,892...126,479,691
Ensembl chr 1:130,084,854...130,114,493
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 1:129,161,151...129,279,702
Ensembl chr 1:132,794,458...132,813,108
JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,635,614...131,638,610
Ensembl chr 1:135,465,671...135,468,666
JBrowse link
G GOLPH3L golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,002,787...126,053,672
Ensembl chr 1:129,652,118...129,703,379
JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,084,009...131,193,884
Ensembl chr 1:134,917,791...135,020,042
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 1:131,962,801...131,969,331
Ensembl chr 1:135,785,754...135,792,652
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 1:129,627,564...129,630,920
Ensembl chr 1:133,241,077...133,244,431
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 1:130,621,991...130,634,402
Ensembl chr 1:134,227,404...134,240,120
JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:132,085,446...132,110,214
Ensembl chr 1:135,907,119...135,917,607
JBrowse link
G HORMAD1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,054,585...126,077,361
Ensembl chr 1:129,704,451...129,726,691
JBrowse link
G HRNR hornerin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,570,653...127,583,285 JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
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 1:129,018,622...129,027,550
Ensembl chr 1:132,647,296...132,656,361
JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:132,183,963...132,195,267
Ensembl chr 1:136,005,458...136,024,374
JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,084,681...129,130,669
Ensembl chr 1:132,714,200...132,759,842
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 1:131,869,002...131,916,554
Ensembl chr 1:135,695,602...135,740,564
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 1:132,064,860...132,071,722
Ensembl chr 1:135,887,702...135,892,908
JBrowse link
G IVL involucrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,254,139...128,256,893 JBrowse link
G JTB jumping translocation breakpoint ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,331,335...129,334,873
Ensembl chr 1:132,959,843...132,963,865
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 1:130,052,903...130,218,977
Ensembl chr 1:133,666,876...133,828,366
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 1:131,246,577...131,268,296
Ensembl chr 1:135,076,831...135,097,760
JBrowse link
G KPLCE KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,064,008...128,064,950
Ensembl chr 1:131,694,686...131,695,438
JBrowse link
G KPRP keratinocyte proline rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,102,434...128,106,461
Ensembl chr 1:131,734,572...131,736,311
JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,517,075...130,526,621
Ensembl chr 1:134,125,272...134,129,527
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 1:131,396,937...131,400,695
Ensembl chr 1:135,226,400...135,230,167
JBrowse link
G LCE1A late cornified envelope 1A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 Ensembl chr 1:131,803,002...131,803,334 JBrowse link
G LCE1B late cornified envelope 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 Ensembl chr 1:131,787,453...131,787,809 JBrowse link
G LCE3A late cornified envelope 3A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,957,291...127,957,560
Ensembl chr 1:131,588,158...131,588,427
JBrowse link
G LCE3B late cornified envelope 3B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,948,218...127,948,505
Ensembl chr 1:131,579,085...131,579,372
JBrowse link
G LCE3C late cornified envelope 3C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,934,426...127,935,482
Ensembl chr 1:131,565,992...131,566,276
JBrowse link
G LCE4A late cornified envelope 4A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,053,534...128,053,844 JBrowse link
G LCE6A late cornified envelope 6A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,187,490...128,188,665
Ensembl chr 1:131,818,696...131,818,938
JBrowse link
G LELP1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,546,313...128,548,024 JBrowse link
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,341,395...130,342,409
Ensembl chr 1:133,950,896...133,951,081
JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,154,152...127,164,591
Ensembl chr 1:130,803,557...130,805,338
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G LOC100968601 small proline-rich protein 2F ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,454,540...128,454,965 JBrowse link
G LOC100970788 small proline-rich protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,344,876...128,346,965
Ensembl chr 1:131,976,194...131,976,679
JBrowse link
G LOC100972613 G patch domain-containing protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,938,622...131,945,524
Ensembl chr 1:135,760,273...135,768,573
JBrowse link
G LOC100976458 zinc transporter ZIP1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,304,237...129,315,484
Ensembl chr 1:132,944,346...132,952,951
Ensembl chr 1:132,944,346...132,952,951
JBrowse link
G LOC100977130 tropomyosin alpha-3 chain ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,511,914...129,538,703
Ensembl chr 1:133,126,641...133,161,894
JBrowse link
G LOC100983642 putative uncharacterized protein RUSC1-AS1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,662,834...130,668,707 JBrowse link
G LOC100987557 metaxin-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,553,631...130,558,744 JBrowse link
G LOC100988711 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,079,871...131,084,486 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,607,506...128,608,808 JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,508,575...126,515,165
Ensembl chr 1:130,157,237...130,163,752
JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,918,760...125,923,952
Ensembl chr 1:129,566,827...129,572,086
JBrowse link
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,806,705...131,844,420
Ensembl chr 1:135,637,801...135,653,866
JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:132,071,430...132,080,297
Ensembl chr 1:135,892,971...135,901,981
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 1:131,414,225...131,424,680
Ensembl chr 1:135,247,776...135,254,034
JBrowse link
G MINDY1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,346,260...126,356,992
Ensembl chr 1:129,994,561...130,006,066
JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,408,533...126,417,624 JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:132,080,651...132,084,541
Ensembl chr 1:135,902,324...135,906,245
JBrowse link
G MRPL9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,118,183...127,122,065
Ensembl chr 1:130,761,826...130,766,349
JBrowse link
G MRPS21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,639,064...125,653,722
Ensembl chr 1:129,289,680...129,304,596
JBrowse link
G MTMR11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,273,431...125,281,903
Ensembl chr 1:128,929,631...128,937,890
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 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,935,295...131,937,843
Ensembl chr 1:135,758,868...135,761,416
JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:132,012,273...132,020,907
Ensembl chr 1:135,835,456...135,844,094
JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,034,972...129,050,439
Ensembl chr 1:132,664,948...132,679,327
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 Ensembl chr 1:136,007,476...136,047,355 JBrowse link
G NUP210L nucleoporin 210 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,349,468...129,510,688
Ensembl chr 1:132,977,876...133,125,344
JBrowse link
G OAZ3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,121,375...127,129,940
Ensembl chr 1:130,765,290...130,773,859
JBrowse link
G OTUD7B OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,282,599...125,355,441
Ensembl chr 1:128,944,782...128,976,474
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 1:131,586,557...131,591,263
Ensembl chr 1:135,416,530...135,421,662
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 1:130,292,611...130,304,667 JBrowse link
G PGLYRP3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,642,034...128,656,082
Ensembl chr 1:132,270,957...132,283,860
JBrowse link
G PGLYRP4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,681,726...128,700,275
Ensembl chr 1:132,310,256...132,329,013
JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,653,794...126,689,690
Ensembl chr 1:130,300,844...130,336,311
JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,547,793...126,598,618
Ensembl chr 1:130,195,974...130,246,198
JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
JBrowse link
G PLEKHO1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,494,740...125,504,990
Ensembl chr 1:129,146,459...129,157,401
JBrowse link
G PMF1 polyamine modulated factor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,556,843...131,583,180 JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818
JBrowse link
G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,761,777...126,818,262
Ensembl chr 1:130,407,426...130,463,909
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 1:132,110,795...132,144,039
Ensembl chr 1:135,933,269...135,966,483
JBrowse link
G PRPF3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,666,604...125,698,591
Ensembl chr 1:129,320,605...129,348,214
JBrowse link
G PRR9 proline rich 9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,560,477...128,562,199 JBrowse link
G PRUNE1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,357,779...126,385,120
Ensembl chr 1:130,006,097...130,032,985
JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,758,604...126,760,989
Ensembl chr 1:130,404,234...130,406,638
JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,603,753...126,616,553
Ensembl chr 1:130,251,323...130,264,256
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 1:130,305,547...130,310,270
Ensembl chr 1:133,912,411...133,920,308
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 1:129,338,524...129,343,234
Ensembl chr 1:132,967,363...132,972,067
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 1:131,403,058...131,412,722
Ensembl chr 1:135,232,544...135,241,732
JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,699,772...126,706,486
Ensembl chr 1:130,345,977...130,352,317
JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,710,282...131,728,487
Ensembl chr 1:135,538,519...135,555,803
JBrowse link
G RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,069,400...127,087,588
Ensembl chr 1:130,716,270...130,731,287
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 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942
JBrowse link
G RORC RAR related orphan receptor C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,164,725...127,190,479
Ensembl chr 1:130,808,705...130,834,490
JBrowse link
G RPRD2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,709,535...125,821,872
Ensembl chr 1:129,359,202...129,469,899
JBrowse link
G RPS27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,347,650...129,349,050
Ensembl chr 1:132,975,795...132,977,192
JBrowse link
G RPTN repetin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,512,265...127,518,017 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 1:130,665,390...130,675,635
Ensembl chr 1:134,270,420...134,280,592
JBrowse link
G RXFP4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,275,631...131,279,593
Ensembl chr 1:135,106,884...135,108,008
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 1:128,984,296...128,987,979 JBrowse link
G S100A10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,341,974...127,353,054
Ensembl chr 1:130,985,312...130,995,130
JBrowse link
G S100A11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,391,695...127,396,231
Ensembl chr 1:131,034,588...131,035,882
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 1:128,725,102...128,727,021
Ensembl chr 1:132,354,132...132,356,085
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 1:128,973,910...128,984,234
Ensembl chr 1:132,602,772...132,616,373
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 1:128,969,353...128,972,484
Ensembl chr 1:132,597,623...132,600,360
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 1:128,961,978...128,968,230
Ensembl chr 1:132,590,360...132,592,827
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 1:128,916,535...128,942,052
Ensembl chr 1:132,545,370...132,550,083
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 1:128,902,495...128,904,247
Ensembl chr 1:132,531,579...132,533,508
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 1:128,898,765...128,901,042
Ensembl chr 1:132,527,846...132,530,122
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 1:128,892,317...128,896,879
Ensembl chr 1:132,521,394...132,525,991
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 1:128,889,749...128,891,425
Ensembl chr 1:132,518,834...132,520,499
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 1:128,741,378...128,742,520
Ensembl chr 1:132,370,435...132,371,591
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 1:128,709,175...128,712,461
Ensembl chr 1:132,338,246...132,341,497
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 1:130,601,017...130,607,373
Ensembl chr 1:134,206,577...134,212,800
JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,723,445...126,731,852
Ensembl chr 1:130,369,065...130,377,419
JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,489,446...131,519,864
Ensembl chr 1:135,321,288...135,350,724
JBrowse link
G SEMA6C semaphorin 6C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,480,899...126,496,032
Ensembl chr 1:130,128,185...130,138,458
JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,275,719...126,314,043
Ensembl chr 1:129,925,009...129,962,442
JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,268,113...125,273,405
Ensembl chr 1:128,924,317...128,929,610
JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:132,149,450...132,160,280
Ensembl chr 1:135,972,824...135,981,754
JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008
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 1:129,834,422...129,857,317
Ensembl chr 1:133,446,417...133,469,841
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 1:131,535,399...131,556,750
Ensembl chr 1:135,366,049...135,387,643
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 1:129,131,843...129,136,746
Ensembl chr 1:132,759,952...132,765,194
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 1:130,483,056...130,486,534
Ensembl chr 1:134,092,045...134,095,233
JBrowse link
G SMCP sperm mitochondria associated cysteine rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,222,932...128,229,417
Ensembl chr 1:131,859,238...131,859,588
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 1:131,592,368...131,634,443
Ensembl chr 1:135,422,268...135,455,734
JBrowse link
G SNAPIN SNAP associated protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,014,668...129,018,428
Ensembl chr 1:132,644,320...132,647,095
JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,968,370...127,052,942
Ensembl chr 1:130,612,787...130,695,863
JBrowse link
G SPRR1B small proline rich protein 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,374,301...128,375,993
Ensembl chr 1:132,005,471...132,005,740
JBrowse link
G SPRR2G small proline rich protein 2G ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,492,168...128,606,586 JBrowse link
G SPRR4 small proline rich protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:128,312,047...128,315,258
Ensembl chr 1:131,944,611...131,944,856
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 1:131,349,072...131,361,008 JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,193,999...131,218,752
Ensembl chr 1:135,026,032...135,046,943
JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:125,832,693...125,852,918
Ensembl chr 1:129,480,824...129,501,639
JBrowse link
G TCHH trichohyalin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,464,436...127,472,690 JBrowse link
G TCHHL1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,442,837...127,447,753
Ensembl chr 1:131,085,544...131,090,456
JBrowse link
G TDRD10 tudor domain containing 10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:129,857,124...129,903,134
Ensembl chr 1:133,469,613...133,515,193
JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,128,857...127,149,197
Ensembl chr 1:130,774,515...130,792,942
JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,540,486...130,553,534
Ensembl chr 1:134,148,468...134,160,245
JBrowse link
G THEM4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,229,378...127,268,884
Ensembl chr 1:130,876,364...130,912,751
JBrowse link
G THEM5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:127,205,721...127,212,112
Ensembl chr 1:130,849,815...130,856,523
JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,625,864...131,635,370
Ensembl chr 1:135,455,766...135,465,426
JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,519,159...126,525,502
Ensembl chr 1:130,167,570...130,173,663
JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,504,849...126,508,578
Ensembl chr 1:130,156,187...130,156,741
JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,521,472...130,532,636
Ensembl chr 1:134,129,984...134,142,362
JBrowse link
G TSACC TSSK6 activating cochaperone ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,679,671...131,709,720
Ensembl chr 1:135,509,160...135,516,912
JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,925,121...131,931,589
Ensembl chr 1:135,747,196...135,754,227
JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,898,611...126,941,893
Ensembl chr 1:130,543,043...130,586,147
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 1:129,575,115...129,626,565
Ensembl chr 1:133,189,194...133,240,090
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 1:129,904,971...129,913,640
Ensembl chr 1:133,515,618...133,525,390
JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,374,635...131,395,986
Ensembl chr 1:135,209,490...135,225,666
JBrowse link
G VHLL VHL like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:131,641,713...131,642,132 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 chr 1:125,412,566...125,490,615
Ensembl chr 1:129,063,462...129,142,990
JBrowse link
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,525,642...126,539,432
Ensembl chr 1:130,174,051...130,187,785
JBrowse link
G YY1AP1 YY1 associated protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:130,995,949...131,024,985
Ensembl chr 1:134,594,908...134,623,588
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 1:130,350,798...130,366,690
Ensembl chr 1:133,959,847...133,975,729
JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 1:126,643,627...126,654,154
Ensembl chr 1:130,294,126...130,300,949
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 chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545
JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:9,811,995...9,836,069
Ensembl chr 3:10,048,554...10,173,107
JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:9,878,265...9,889,826 JBrowse link
G EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:9,907,446...9,932,140
Ensembl chr 3:10,256,276...10,280,626
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 chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702
JBrowse link
G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:9,861,423...9,878,154
Ensembl chr 3:10,210,241...10,226,796
JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:9,846,319...9,860,735
Ensembl chr 3:10,195,209...10,208,958
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 chr 3:9,835,123...9,838,398
Ensembl chr 3:10,183,760...10,187,064
JBrowse link
G PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:9,890,336...9,897,263
Ensembl chr 3:10,238,720...10,246,127
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
JBrowse link
severe congenital neutropenia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3R colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | ClinVar Annotator: match by term: Neutropenia, severe congenital, 7, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:10449521 PMID:16199547 PMID:17576681 PMID:23604229 More... NCBI chr 1:35,730,678...35,747,939
Ensembl chr 1:36,897,153...36,910,612
JBrowse link
severe congenital neutropenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100987236 signal recognition particle subunit SRP54 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant OMIM
ClinVar
PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151
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 chr11:67,364,012...67,514,035
Ensembl chr11:70,594,633...70,736,699
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 chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
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 chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:23,876,931...23,956,032
Ensembl chr2B:139,977,483...140,056,836
JBrowse link
G LCT lactase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:24,025,383...24,079,779
Ensembl chr2B:139,855,605...139,908,764
JBrowse link
G MCM6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:23,986,278...24,023,045
Ensembl chr2B:139,911,909...139,947,687
JBrowse link
G R3HDM1 R3H domain containing 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:24,141,258...24,331,499
Ensembl chr2B:139,654,036...139,793,678
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 chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721
JBrowse link
G UBXN4 UBX domain protein 4 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:24,081,450...24,124,876
Ensembl chr2B:139,810,274...139,850,671
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 chr2B:24,331,731...24,665,652
Ensembl chr2B:139,234,909...139,577,193
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 chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
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:41,088,724...41,092,190
Ensembl chr  X:48,945,394...48,953,126
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:42,396,399...42,406,725
Ensembl chr  X:50,109,367...50,119,658
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:39,997,026...40,007,783
Ensembl chr  X:47,893,153...47,904,643
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:43,071,039...43,076,941
Ensembl chr  X:50,783,925...50,791,369
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:41,504,804...41,533,501
Ensembl chr  X:49,356,994...49,385,678
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:41,341,834...41,367,761
Ensembl chr  X:49,207,391...49,223,552
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:41,535,439...41,550,547
Ensembl chr  X:49,387,980...49,402,742
JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,409,954...42,511,811
Ensembl chr  X:50,157,122...50,223,547
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:39,655,119...39,666,878
Ensembl chr  X:47,512,647...47,524,742
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:40,060,106...40,066,720
Ensembl chr  X:47,956,191...47,961,965
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia