Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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 chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15999287 NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172
JBrowse link
G IL1B interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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 chr17:69,149,197...69,168,476
Ensembl chr17:69,147,937...69,161,045
JBrowse link
3-methylglutaconic aciduria type 7a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105
JBrowse link
3-methylglutaconic aciduria type 7b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,313,971...63,317,170
Ensembl chr 1:63,314,274...63,315,664
JBrowse link
G ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,923,241...63,991,221
Ensembl chr 1:63,920,076...63,960,771
JBrowse link
G ARHGEF17 Rho guanine nucleotide exchange factor 17 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,553,134...64,613,573
Ensembl chr 1:64,552,842...64,616,112
JBrowse link
G ARRB1 arrestin beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,489,358...66,580,167
Ensembl chr 1:66,490,102...66,580,154
JBrowse link
G ATG16L2 autophagy related 16 like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,051,793...64,066,204
Ensembl chr 1:64,052,390...64,065,972
JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,282,311...65,436,007
Ensembl chr 1:65,282,318...65,435,834
JBrowse link
G CHRDL2 chordin like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,939,361...65,973,987
Ensembl chr 1:65,939,446...65,973,492
JBrowse link
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105
JBrowse link
G COA4 cytochrome c oxidase assembly factor 4 homolog, mitochondrial ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,134,169...65,138,262
Ensembl chr 1:65,134,169...65,138,205
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 chr 1:3,243,263...3,257,332
Ensembl chr 1:3,243,313...3,257,487
JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,211,142...65,233,948
Ensembl chr 1:65,217,224...65,235,556
JBrowse link
G FAM168A family with sequence similarity 168 member A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,650,781...64,844,078
Ensembl chr 1:64,647,177...64,844,097
JBrowse link
G FCHSD2 FCH and double SH3 domains 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,073,563...64,383,695
Ensembl chr 1:64,075,109...64,383,589
JBrowse link
G FOLR1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,405,513...63,413,372
Ensembl chr 1:63,406,597...63,413,352
JBrowse link
G FOLR2 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,436,430...63,441,924
Ensembl chr 1:63,436,684...63,441,743
JBrowse link
G GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,665,496...66,755,712
Ensembl chr 1:66,664,914...66,755,692
JBrowse link
G IL18BP interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,199,412...63,204,615
Ensembl chr 1:63,200,284...63,203,934
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,443,819...63,459,067
Ensembl chr 1:63,444,713...63,459,776
JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,699,558...65,710,305
Ensembl chr 1:65,700,156...65,700,467
JBrowse link
G KLHL35 kelch like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,652,934...66,665,406 JBrowse link
G LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,301,354...63,307,716
Ensembl chr 1:63,301,885...63,307,553
JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,731,258...65,733,803
Ensembl chr 1:65,731,969...65,733,563
JBrowse link
G MRPL48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,045,885...65,124,962
Ensembl chr 1:65,046,224...65,126,253
JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:3,189,054...3,243,087
Ensembl chr 1:3,188,348...3,238,435
JBrowse link
G NEU3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,220,472...66,243,163 JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,204,968...63,284,673
Ensembl chr 1:63,202,913...63,273,774
JBrowse link
G P2RY2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,461,929...64,481,429
Ensembl chr 1:64,479,642...64,480,775
JBrowse link
G P2RY6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,508,959...64,543,302
Ensembl chr 1:64,541,221...64,542,207
JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,528,378...65,566,430
Ensembl chr 1:65,528,357...65,566,358
JBrowse link
G PAAF1 proteasomal ATPase associated factor 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,138,343...65,190,363
Ensembl chr 1:65,138,373...65,190,420
JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,812,877...63,912,602
Ensembl chr 1:63,812,840...63,880,492
JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,589,923...65,643,434
Ensembl chr 1:65,590,355...65,643,386
JBrowse link
G PHOX2A paired like homeobox 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,459,031...63,464,674
Ensembl chr 1:63,459,719...63,463,894
JBrowse link
G PLEKHB1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,893,566...64,909,714
Ensembl chr 1:64,894,988...64,909,789
JBrowse link
G POLD3 DNA polymerase delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,832,887...65,885,671 JBrowse link
G PPME1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,436,109...65,516,486
Ensembl chr 1:65,469,025...65,517,288
JBrowse link
G RAB6A RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,923,071...65,020,279
Ensembl chr 1:64,922,496...65,020,207
JBrowse link
G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,620,843...64,641,180
Ensembl chr 1:64,633,421...64,640,019
JBrowse link
G RNF121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,132,235...63,198,235
Ensembl chr 1:63,132,568...63,197,993
JBrowse link
G RNF169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,990,538...66,080,163 JBrowse link
G RPS3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,629,895...66,636,462
Ensembl chr 1:66,629,954...66,635,344
JBrowse link
G SERPINH1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,787,978...66,798,930
Ensembl chr 1:66,788,240...66,799,072
JBrowse link
G SLCO2B1 solute carrier organic anion transporter family member 2B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,375,924...66,430,804
Ensembl chr 1:66,376,299...66,433,055
JBrowse link
G SPCS2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,180,863...66,210,315
Ensembl chr 1:66,180,898...66,210,316
JBrowse link
G STARD10 StAR related lipid transfer domain containing 10 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,993,578...64,032,849
Ensembl chr 1:63,991,312...64,020,610
JBrowse link
G TPBGL trophoblast glycoprotein like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,463,987...66,467,860
Ensembl chr 1:66,465,198...66,466,349
JBrowse link
G UCP2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,238,311...65,246,841
Ensembl chr 1:65,235,775...65,246,450
JBrowse link
G UCP3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,269,611...65,279,079
Ensembl chr 1:65,269,607...65,278,807
JBrowse link
G XRRA1 X-ray radiation resistance associated 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,080,378...66,191,449
Ensembl chr 1:66,080,949...66,170,416
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 chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105
JBrowse link
Chemotherapy-Induced Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr28:13,473,649...13,517,905
Ensembl chr28:13,491,483...13,519,507
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa treatment ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chr20:2,466,492...2,475,579 JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G ITPA inosine triphosphatase ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chr 2:33,873,231...33,893,329
Ensembl chr 2:33,873,339...33,893,556
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility
disease progression
ISO associated with leukemia;
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:
associated with Neoplasms;DNA:SNP,haplotyep:promoter:
RGD PMID:20930093 PMID:24453114 PMID:24819208 RGD:11530041 RGD:11530043 RGD:11530056 NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
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 chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890
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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
cyclic hematopoiesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD17A abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,678,836...1,687,370
Ensembl chr 6:1,676,438...1,687,353
JBrowse link
G ADAMTSL5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,278,045...1,287,257
Ensembl chr 6:1,279,036...1,284,946
JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,695,897...1,705,718 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 4:72,225,658...72,524,971
Ensembl chr 4:72,225,599...72,524,933
JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,901,669...1,951,352
Ensembl chr 6:1,901,507...1,951,314
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,218,684...1,244,343 JBrowse link
G ARHGAP45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:823,109...842,697
Ensembl chr 6:823,154...846,070
JBrowse link
G ARID3A AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:667,426...727,987
Ensembl chr 6:680,965...727,843
JBrowse link
G ATP5F1D ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,010,210...1,013,360
Ensembl chr 6:1,010,265...1,013,002
JBrowse link
G ATP8B3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,575,914...1,602,798 JBrowse link
G AZU1 azurocidin 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:576,366...586,913 JBrowse link
G BTBD2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,785,433...1,809,931 JBrowse link
G CFD complement factor D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:608,821...612,382
Ensembl chr 6:608,800...613,498
JBrowse link
G CIRBP cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,037,389...1,043,265
Ensembl chr 6:1,039,401...1,042,187
JBrowse link
G CNN2 calponin 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G CSNK1G2 casein kinase 1 gamma 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,743,018...1,781,844
Ensembl chr 6:1,743,061...1,783,406
JBrowse link
G CUNH19orf25 chromosome unknown C19orf25 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,245,150...1,250,512
Ensembl chr 6:1,245,729...1,250,461
JBrowse link
G DAZAP1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,181,416...1,208,784
Ensembl chr 6:1,181,408...1,208,838
JBrowse link
G EFNA2 ephrin A2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,054,382...1,069,544
Ensembl chr 6:1,054,483...1,068,232
JBrowse link
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 chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725
JBrowse link
G FAM174C family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,043,355...1,047,656
Ensembl chr 6:1,044,000...1,047,778
JBrowse link
G FGF22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:385,718...393,988
Ensembl chr 6:385,811...388,702
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,165,016...1,178,458
Ensembl chr 6:1,164,259...1,178,354
JBrowse link
G GPX4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:873,867...876,225 JBrowse link
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:756,257...766,175
Ensembl chr 6:756,618...766,048
JBrowse link
G HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:326,437...358,119
Ensembl chr 6:324,517...358,119
JBrowse link
G IZUMO4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,897,533...1,900,266
Ensembl chr 6:1,897,573...1,900,295
JBrowse link
G KISS1R KISS1 receptor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:666,386...670,833
Ensembl chr 6:667,210...670,563
JBrowse link
G KLF16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,657,265...1,668,431
Ensembl chr 6:1,659,316...1,668,327
JBrowse link
G LOC103233581 follistatin-related protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:425,050...435,931
Ensembl chr 6:425,106...436,431
JBrowse link
G LOC103233590 phospholipid-transporting ATPase ABCA7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:792,684...821,522
Ensembl chr 6:792,783...821,375
JBrowse link
G LOC103233598 CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:999,327...1,006,632 JBrowse link
G LOC103233614 cytochrome b-c1 complex subunit 10 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,378,019...1,388,975 JBrowse link
G MBD3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,357,388...1,371,835
Ensembl chr 6:1,357,204...1,371,777
JBrowse link
G MED16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:617,998...638,340 JBrowse link
G MEX3D mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,315,113...1,347,540 JBrowse link
G MIDN midnolin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,017,141...1,027,577
Ensembl chr 6:1,018,290...1,027,618
JBrowse link
G MISP mitotic spindle positioning ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:505,841...520,758
Ensembl chr 6:506,482...520,827
JBrowse link
G MKNK2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,836,009...1,851,325
Ensembl chr 6:1,835,993...1,851,039
JBrowse link
G MOB3A MOB kinase activator 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,872,426...1,897,476
Ensembl chr 6:1,870,701...1,885,300
JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,152,380...1,163,488
Ensembl chr 6:1,152,540...1,164,175
JBrowse link
G ONECUT3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 Ensembl chr 6:1,540,584...1,569,628 JBrowse link
G PALM paralemmin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:461,030...503,688
Ensembl chr 6:474,474...504,230
JBrowse link
G PCSK4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,253,729...1,264,114
Ensembl chr 6:1,254,276...1,263,847
JBrowse link
G PLK5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,301,199...1,309,349 JBrowse link
G PLPPR3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:560,961...571,202
Ensembl chr 6:558,495...570,619
JBrowse link
G POLR2E RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:844,196...856,127
Ensembl chr 6:841,615...855,214
JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:358,865...377,007
Ensembl chr 6:358,917...377,089
JBrowse link
G PRSS57 serine protease 57 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:443,859...449,539
Ensembl chr 6:444,098...449,152
JBrowse link
G PRTN3 proteinase 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:590,193...598,829 JBrowse link
G PTBP1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:546,010...560,086
Ensembl chr 6:545,964...562,630
JBrowse link
G PWWP3A PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,123,556...1,145,761
Ensembl chr 6:1,125,080...1,145,358
JBrowse link
G R3HDM4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:643,058...662,407
Ensembl chr 6:644,005...662,338
JBrowse link
G REEP6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,264,551...1,271,674 JBrowse link
G REXO1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,605,913...1,638,819
Ensembl chr 6:1,604,929...1,638,468
JBrowse link
G RNF126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:392,717...409,139 JBrowse link
G RPS15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,211,716...1,213,896
Ensembl chr 6:1,211,713...1,214,044
JBrowse link
G SBNO2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:877,066...950,663
Ensembl chr 6:877,049...931,433
JBrowse link
G SCAMP4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,695,545...1,718,633
Ensembl chr 6:1,695,876...1,719,189
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136
JBrowse link
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:1,393,147...1,440,515
Ensembl chr 6:1,393,107...1,440,479
JBrowse link
G TMEM259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:766,097...777,348
Ensembl chr 6:765,587...777,399
JBrowse link
G WDR18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 6:740,712...750,797
Ensembl chr 6:740,729...754,592
JBrowse link
Drug-Induced Agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3 colony stimulating factor 3 treatment ISO associated with Multiple Myeloma;
associated with Graves Disease;
RGD PMID:8935143 PMID:15785251 RGD:11039034 RGD:11039041 NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172
JBrowse link
G IL1B interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO associated with Leukemia;protein:decreased expression:serum: RGD PMID:8698137 RGD:11528539 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326
JBrowse link
G NAT2 N-acetyltransferase 2 ISO associated with Inflammation; RGD PMID:10739170 RGD:11532771 NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621
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 Breast Neoplasms;DNA:SNP: :3435 C>T(human)
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)
RGD PMID:17534875 PMID:22271208 PMID:25007187 RGD:11080964 RGD:11080979 RGD:11081001 NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 susceptibility
no_association
ISO associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295 PMID:23188068 RGD:11080980 RGD:11080999 NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO associated with Hepatitis C, Chronic;
associated with Leukemia, Hairy Cell;
RGD PMID:2461131 PMID:17660602 RGD:11039035 RGD:11039036 NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172
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 chr 9:88,154,131...88,183,915
Ensembl chr 9:88,154,134...88,183,458
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)
associated with Ovarian Neoplasms: DNA:polymorphism: :
RGD PMID:19332043 PMID:21702053 RGD:11353800 RGD:11353804 NCBI chr28:13,473,649...13,517,905
Ensembl chr28:13,491,483...13,519,507
JBrowse link
G DPYD dihydropyrimidine dehydrogenase treatment
no_association
ISO DNA:splice-site mutation, missense mutations: :multiple
associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (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 chr20:35,376,738...36,215,388
Ensembl chr20:35,377,266...36,215,679
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO associated with Colorectal Neoplasms;DNA:SNP RGD PMID:23543295 RGD:11340199 NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment ISO associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:21047201 RGD:11098572 NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa ISO associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)
associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)
RGD PMID:19933905 PMID:20730791 PMID:21883784 RGD:11344964 RGD:11344973 RGD:11352256 NCBI chr20:2,466,492...2,475,579 JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G IL1A interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
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 chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890
JBrowse link
G SLCO1B3 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 chr11:20,637,429...20,760,577
Ensembl chr11:20,648,582...20,761,161
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 chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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 chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality OMIM
ClinVar
PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 1:110,418,497...110,431,636
Ensembl chr 1:110,417,942...110,431,590
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 chr27:39,929,749...39,973,892
Ensembl chr27:39,929,787...39,974,012
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 chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 5:74,630,108...74,682,232
Ensembl chr 5:74,628,310...74,682,232
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO RGD PMID:12125811 RGD:1578409 NCBI chr 4:72,225,658...72,524,971
Ensembl chr 4:72,225,599...72,524,933
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532
G C5 complement C5 ISO RGD PMID:10188960 PMID:10516626 RGD:1600665 RGD:5130180 NCBI chr12:18,525,855...18,624,048
Ensembl chr12:18,525,880...18,623,636
JBrowse link
G C5AR1 complement C5a receptor 1 ISO RGD PMID:10516626 RGD:5130180 NCBI chr 6:40,633,540...40,651,839
Ensembl chr 6:40,633,448...40,652,845
JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr  X:128,018,651...128,030,122
Ensembl chr  X:128,019,090...128,030,083
JBrowse link
G CFB complement factor B ISO ClinVar Annotator: match by term: Neutropenia ClinVar Ensembl chr17:40,069,909...40,094,207 JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Neutropenia ClinVar
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More... NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105
JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:7875148 PMID:10832225 PMID:11264156 RGD:10449510 NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140
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 chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172
JBrowse link
G CUNH16orf92 chromosome unknown C16orf92 homolog ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 5:26,639,049...26,640,862
Ensembl chr 5:26,639,548...26,640,418
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12562666 NCBI chr20:35,376,738...36,215,388
Ensembl chr20:35,377,266...36,215,679
JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:9536098 PMID:10581030 PMID:17576681 PMID:20049848 PMID:23463630 More... NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725
JBrowse link
G EPHX1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535
JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa ISO DNA:SNP:cds:p.R131H (human) RGD PMID:11295474 RGD:11040988 NCBI chr20:2,480,710...2,512,429 JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO DNA:mutation:exon: RGD PMID:11810106 PMID:22684987 RGD:11040449 RGD:11040456 NCBI chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717
JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 PMID:32581362 NCBI chr20:9,537,544...9,545,214
Ensembl chr20:9,537,525...9,545,299
JBrowse link
G HOXD13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr10:61,662,670...61,670,955
Ensembl chr10:61,667,880...61,669,743
JBrowse link
G IFNA2 interferon alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1670585 NCBI chr12:58,468,018...58,469,825 JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
JBrowse link
G ITGAM integrin subunit alpha M ISO associated with Brain Contusion RGD PMID:8835801 RGD:329901911 NCBI chr 5:27,957,162...28,042,697
Ensembl chr 5:27,957,324...28,042,691
JBrowse link
G JAGN1 jagunal homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129144 PMID:25129145 NCBI chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250
JBrowse link
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:85,858,364...85,923,211
Ensembl chr 9:85,858,381...85,923,819
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr10:2,540,383...2,578,117
Ensembl chr10:2,543,091...2,579,332
JBrowse link
G LOC103223672 low affinity immunoglobulin gamma Fc region receptor II-b ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr20:2,398,425...2,413,328 JBrowse link
G LOC103233851 mucin-16 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 6:8,110,087...8,256,015 JBrowse link
G MAGEC1 MAGE family member C1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr  X:116,798,923...116,808,493 JBrowse link
G MKI67 marker of proliferation Ki-67 ISO protein:increased expression:blood, T cell RGD PMID:22092365 RGD:6483522 NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19391036 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
JBrowse link
G NUP98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 1:62,924,514...63,050,060
Ensembl chr 1:62,925,050...63,050,111
JBrowse link
G PKP3 plakophilin 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:214,986...223,958
Ensembl chr 1:215,874...224,015
JBrowse link
G POLR3C RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr20:12,901,879...12,919,748
Ensembl chr20:12,901,898...12,919,783
JBrowse link
G PTAFR platelet activating factor receptor treatment ISO RGD PMID:3011900 RGD:10043179 NCBI chr20:104,627,591...104,658,840
Ensembl chr20:104,657,179...104,658,207
JBrowse link
G RNF128 ring finger protein 128 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr  X:94,568,746...94,633,627
Ensembl chr  X:94,568,776...94,633,618
JBrowse link
G RPS14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr23:53,046,670...53,052,082
Ensembl chr23:53,044,994...53,050,194
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695
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 chr16:57,446,825...57,457,605
Ensembl chr16:57,447,137...57,456,754
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 chr11:52,297,890...52,316,089
Ensembl chr11:52,297,543...52,316,105
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 chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
JBrowse link
G TLE2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 6:2,770,558...2,792,228 JBrowse link
G TMEM63A transmembrane protein 63A ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr25:3,887,535...3,924,422
Ensembl chr25:3,890,581...3,922,944
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:15986200 RGD:1580321
G TNFRSF10A TNF receptor superfamily member 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673
JBrowse link
G TPMT thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18662289 NCBI chr17:53,987,561...54,012,647
Ensembl chr17:53,987,559...54,014,650
JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr26:19,947,806...20,030,515
Ensembl chr26:19,948,453...19,992,638
JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 2:33,527,526...33,554,742
Ensembl chr 2:33,527,554...33,557,145
JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr14:76,084,693...76,162,840
Ensembl chr14:76,085,368...76,163,936
JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 8:137,656,299...137,762,448
Ensembl chr 8:137,656,302...137,762,403
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 chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717
JBrowse link
G TERT telomerase reverse transcriptase ISO RGD PMID:22133767 RGD:11038657 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
JBrowse link
poikiloderma with neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USB1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Poikiloderma with neutropenia OMIM
ClinVar
PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 More... NCBI chr 5:43,932,208...43,956,719
Ensembl chr 5:43,932,847...43,957,074
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 chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618
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 chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618
JBrowse link
G ELANE elastase, neutrophil expressed ISO mRNA:decreased expression:myeloid CD33+ cell:
DNA:mutation:intron:c.597+1G>A (human)
DNA:mutations: :
RGD PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599 RGD:10450514 RGD:10450519 RGD:10450525 RGD:1598891 NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725
JBrowse link
G FCHO1 FCH and mu domain containing endocytic adaptor 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:30822429 PMID:32098969 NCBI chr 6:16,223,036...16,259,228
Ensembl chr 6:16,238,045...16,265,440
JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chr16:62,315,324...62,321,522
Ensembl chr16:62,315,624...62,321,512
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 chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717
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 chr20:9,537,544...9,545,214
Ensembl chr20:9,537,525...9,545,299
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 chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Congenital neutropenia ClinVar PMID:24753205 NCBI chr 1:6,484,469...6,497,008
Ensembl chr 1:6,484,474...6,494,719
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 chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:24753205 NCBI chr 1:6,484,469...6,497,008
Ensembl chr 1:6,484,474...6,494,719
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 8:93,899,666...94,737,123
Ensembl chr 8:93,901,284...94,735,262
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 chr16:45,599,934...45,603,207
Ensembl chr16:45,600,038...45,602,561
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 chr16:45,607,216...45,649,357
Ensembl chr16:45,607,329...45,651,086
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 chr22:52,977,101...52,994,766
Ensembl chr22:52,976,872...52,992,039
JBrowse link
severe congenital neutropenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105
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 chr20:40,298,048...40,416,324
Ensembl chr20:40,298,090...40,415,123
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 chr20:40,469,415...40,751,561
Ensembl chr20:40,470,911...40,746,422
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant OMIM
ClinVar
PMID:9536098 PMID:11807637 PMID:12778173 PMID:17576681 PMID:20560965 More... NCBI chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717
JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr20:40,416,553...40,427,027
Ensembl chr20:40,413,897...40,427,060
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 chr20:8,767,836...8,779,399
Ensembl chr20:8,768,112...8,779,311
JBrowse link
G ADAMTSL4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329
JBrowse link
G ANP32E acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G ANXA9 annexin A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G APH1A aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,489,562...9,506,229
Ensembl chr20:9,492,846...9,496,367
JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,884,220...7,927,738
Ensembl chr20:7,905,662...7,930,657
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G ASH1L ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,290,606...8,499,991
Ensembl chr20:8,322,504...8,500,129
JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,466,397...9,491,705
Ensembl chr20:9,465,851...9,489,564
JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,203,546...7,221,108
Ensembl chr20:7,203,378...7,220,973
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,623,716...7,626,353
Ensembl chr20:7,623,883...7,624,812
JBrowse link
G BNIPL BCL2 interacting protein like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G C2CD4D C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,846,708...11,847,963
Ensembl chr20:11,846,792...11,847,853
JBrowse link
G CA14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,518,729...7,545,296
Ensembl chr20:7,518,846...7,545,677
JBrowse link
G CDC42SE1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,633,187...12,636,838
Ensembl chr16:41,319,304...41,319,540
Ensembl chr16:41,319,304...41,319,540
JBrowse link
G CELF3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,973,531...11,988,560
Ensembl chr20:11,981,181...11,992,302
JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G CFAP141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,615,258...9,622,816
Ensembl chr20:9,615,288...9,622,752
JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,155,782...12,183,849 JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,245,803...9,255,430
Ensembl chr20:9,247,231...9,253,795
JBrowse link
G CHTOP chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,159,463...10,170,949
Ensembl chr20:10,154,734...10,170,883
JBrowse link
G CIART circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G CKS1B CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,849,411...8,854,022 JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,562,334...8,578,880 JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,159,022...7,164,586
Ensembl chr20:7,159,238...7,164,163
JBrowse link
G CRCT1 cysteine rich C-terminal 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,184,616...11,187,345 JBrowse link
G CREB3L4 cAMP responsive element binding protein 3 like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:9,839,137...9,848,413
Ensembl chr20:9,838,085...9,845,287
JBrowse link
G CRNN cornulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,280,298...11,285,906 JBrowse link
G CRTC2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:9,853,094...9,864,843
Ensembl chr20:9,853,481...9,865,083
JBrowse link
G CTSK cathepsin K ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G CTSS cathepsin S ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G CUNH1orf43 chromosome unknown C1orf43 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,601,210...9,617,238 JBrowse link
G CUNH1orf54 chromosome unknown C1orf54 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G CUNH1orf56 chromosome unknown C1orf56 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,122,440...8,174,665
Ensembl chr20:8,128,014...8,173,852
JBrowse link
G DCST1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,779,692...8,797,327
Ensembl chr20:8,779,754...8,797,306
JBrowse link
G DCST2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,797,630...8,812,512 JBrowse link
G DENND4B DENN domain containing 4B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:9,865,833...9,882,259
Ensembl chr20:9,868,106...9,881,465
JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,689,727...8,690,430 JBrowse link
G ECM1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,695,446...8,702,556
Ensembl chr20:8,696,241...8,702,379
JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,742,383...8,751,275 JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,758,126...8,767,750
Ensembl chr20:8,761,883...8,766,830
JBrowse link
G ENSA endosulfine alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G ENTREP3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,578,983...8,587,181
Ensembl chr20:8,579,435...8,587,399
JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,514,311...8,526,363 JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,838,130...8,846,654
Ensembl chr20:8,837,892...8,846,043
JBrowse link
G GABPB2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,558,951...12,623,941 JBrowse link
G GATAD2B GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:9,888,586...10,003,215
Ensembl chr20:9,888,705...10,000,099
JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,598,110...8,631,517
Ensembl chr20:8,598,628...8,630,990
JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,566,424...7,572,018
Ensembl chr20:7,566,538...7,573,843
JBrowse link
G GOLPH3L golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,021,625...8,230,165
Ensembl chr20:8,025,074...8,127,097
JBrowse link
G GPATCH4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,260,385...7,268,112
Ensembl chr20:7,262,763...7,270,442
JBrowse link
G HAPLN2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,237,940...7,244,840
Ensembl chr20:7,238,281...7,240,183
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 chr20:9,537,544...9,545,214
Ensembl chr20:9,537,525...9,545,299
JBrowse link
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,546,609...8,558,911
Ensembl chr20:8,545,720...8,558,056
JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,109,133...7,122,715
Ensembl chr20:7,119,450...7,122,834
JBrowse link
G HORMAD1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G HRNR hornerin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,439,492...11,442,174 JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,345,723...9,418,963
Ensembl chr20:9,361,152...9,396,610
JBrowse link
G ILF2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,129,912...10,147,376 JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,008,882...7,029,377
Ensembl chr20:7,010,504...7,028,557
JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,037,176...10,085,499 JBrowse link
G IQGAP3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,286,819...7,334,352
Ensembl chr20:7,286,886...7,333,284
JBrowse link
G ISG20L2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,136,174...7,141,404
Ensembl chr20:7,136,956...7,141,140
JBrowse link
G IVL involucrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,809,528...10,814,646 JBrowse link
G JTB jumping translocation breakpoint ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:9,828,542...9,838,990
Ensembl chr20:9,829,085...9,838,819
JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,961,833...9,124,728
Ensembl chr20:8,962,302...9,124,166
JBrowse link
G KHDC4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,941,544...7,964,325
Ensembl chr20:7,941,613...7,963,603
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 chr20:10,991,430...10,994,306
Ensembl chr20:10,993,289...10,994,104
JBrowse link
G KPRP keratinocyte proline rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,955,183...10,959,767
Ensembl chr20:10,955,971...10,957,707
JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,659,239...8,666,375
Ensembl chr20:8,658,881...8,666,831
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 chr20:7,806,509...7,810,296
Ensembl chr20:7,806,510...7,810,456
JBrowse link
G LCE6A late cornified envelope 6A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,878,229...10,879,885
Ensembl chr20:10,878,566...10,878,805
JBrowse link
G LELP1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,550,088...10,552,203
Ensembl chr20:10,550,213...10,550,491
JBrowse link
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,836,074...8,838,034
Ensembl chr20:8,837,451...8,837,633
JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,881,186...11,886,931
Ensembl chr20:11,884,472...11,886,253
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780
JBrowse link
G LOC103224000 late cornified envelope protein 3B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,088,496...11,090,742 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,494,570...10,497,944 JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,523,798...12,541,970
Ensembl chr20:12,524,487...12,529,496
JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,358,647...7,394,068
Ensembl chr20:7,358,653...7,396,972
JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,127,876...7,136,051
Ensembl chr20:7,123,538...7,135,961
JBrowse link
G MEX3A mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,781,766...7,793,373 JBrowse link
G MINDY1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G MIR9-1HG MIR9-1 host gene ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,421,888...7,457,737 JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,625,224...12,635,589
Ensembl chr20:12,626,214...12,626,486
JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,123,524...7,127,531 JBrowse link
G MRPL9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,922,230...11,961,387
Ensembl chr20:11,922,239...11,962,254
JBrowse link
G MRPS21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,109,520...8,112,635 JBrowse link
G MTMR11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G MTX1 metaxin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,617,321...8,621,899 JBrowse link
G MUC1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962
JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,267,885...7,270,440
Ensembl chr20:7,268,100...7,270,442
JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,185,208...7,193,964
Ensembl chr20:7,185,390...7,193,983
JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,115,319...10,131,933
Ensembl chr20:10,115,105...10,131,200
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670
JBrowse link
G NUP210L nucleoporin 210 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,671,203...9,821,257
Ensembl chr20:9,671,482...9,815,252
JBrowse link
G OAZ3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,916,163...11,922,770 JBrowse link
G OTUD7B OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,618,905...7,622,977
Ensembl chr20:7,620,224...7,622,884
JBrowse link
G PBXIP1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,872,492...8,884,029
Ensembl chr20:8,872,409...8,884,450
JBrowse link
G PGLYRP3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,445,996...10,459,908
Ensembl chr20:10,446,660...10,459,478
JBrowse link
G PGLYRP4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,406,242...10,422,989
Ensembl chr20:10,405,138...10,422,625
JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,358,758...12,395,372
Ensembl chr20:12,358,762...12,394,661
JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,439,726...12,490,331 JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,540,228...8,547,184
Ensembl chr20:8,540,763...8,545,884
JBrowse link
G PLEKHO1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G PMF1 polyamine modulated factor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,627,084...7,655,751
Ensembl chr20:7,627,524...7,655,724
JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,893,297...8,906,882
Ensembl chr20:8,894,786...8,906,873
JBrowse link
G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,236,036...12,290,937
Ensembl chr20:12,236,145...12,290,956
JBrowse link
G PRCC proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,068,711...7,099,745
Ensembl chr20:7,068,333...7,099,339
JBrowse link
G PRPF3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G PRR9 proline rich 9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,536,752...10,539,360
Ensembl chr20:10,537,569...10,537,916
JBrowse link
G PRUNE1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,291,727...12,294,120
Ensembl chr20:12,291,070...12,294,311
JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,424,557...12,434,929 JBrowse link
G PYGO2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,866,928...8,871,645
Ensembl chr20:8,866,711...8,871,770
JBrowse link
G RAB13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:9,832,220...9,836,890 JBrowse link
G RAB25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,794,890...7,804,528
Ensembl chr20:7,794,884...7,804,246
JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,345,078...12,351,699
Ensembl chr20:12,345,063...12,352,646
JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,475,404...7,493,109
Ensembl chr20:7,475,438...7,492,629
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 chr20:11,960,766...11,969,119
Ensembl chr20:11,961,540...11,969,003
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,965,944...7,979,396
Ensembl chr20:7,966,057...7,976,819
JBrowse link
G RORC RAR related orphan receptor C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,854,911...11,880,221
Ensembl chr20:11,855,005...11,879,717
JBrowse link
G RPRD2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G RPS27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,821,812...9,823,267 JBrowse link
G RPTN repetin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,490,879...11,498,433 JBrowse link
G RUSC1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,504,123...8,514,113
Ensembl chr20:8,503,727...8,513,519
JBrowse link
G RXFP4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,930,719...7,933,422 JBrowse link
G S100A1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,172,916...10,176,905 JBrowse link
G S100A10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,690,580...11,701,561 JBrowse link
G S100A11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,613,171...11,617,711 JBrowse link
G S100A12 S100 calcium binding protein A12 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,377,418...10,379,638 JBrowse link
G S100A13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,177,062...10,186,382
Ensembl chr20:10,177,694...10,186,421
JBrowse link
G S100A14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,188,016...10,190,973
Ensembl chr20:10,188,866...10,190,979
JBrowse link
G S100A16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,192,117...10,198,257 JBrowse link
G S100A2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,238,870...10,243,072
Ensembl chr20:10,240,451...10,243,294
JBrowse link
G S100A3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,249,332...10,256,671
Ensembl chr20:10,255,515...10,256,318
JBrowse link
G S100A4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,258,142...10,260,390
Ensembl chr20:10,258,070...10,260,871
JBrowse link
G S100A5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,260,479...10,267,615
Ensembl chr20:10,263,814...10,266,685
JBrowse link
G S100A6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,267,708...10,269,361
Ensembl chr20:10,267,556...10,269,405
JBrowse link
G S100A7 S100 calcium binding protein A7 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,338,971...10,342,366 JBrowse link
G S100A8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,363,142...10,364,293
Ensembl chr20:10,363,287...10,364,317
JBrowse link
G S100A9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,391,965...10,395,216
Ensembl chr20:10,391,934...10,394,720
JBrowse link
G SCAMP3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,321,445...12,330,495
Ensembl chr20:12,321,292...12,330,746
JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,684,107...7,716,866
Ensembl chr20:7,683,994...7,708,741
JBrowse link
G SEMA6C semaphorin 6C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,542,234...12,557,041
Ensembl chr20:12,546,281...12,560,674
JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,052,170...7,063,262
Ensembl chr20:7,052,797...7,062,324
JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,854,189...8,866,406
Ensembl chr20:8,858,458...8,866,610
JBrowse link
G SHE Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,324,123...9,358,509
Ensembl chr20:9,324,296...9,345,730
JBrowse link
G SLC25A44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,655,836...7,675,356
Ensembl chr20:7,655,834...7,675,190
JBrowse link
G SLC27A3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,031,007...10,037,082
Ensembl chr20:10,031,164...10,035,876
JBrowse link
G SLC39A1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:9,847,928...9,852,998
Ensembl chr20:9,847,968...9,853,413
JBrowse link
G SLC50A1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,691,479...8,694,993
Ensembl chr20:8,691,053...8,695,018
JBrowse link
G SMCP sperm mitochondria associated cysteine rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,838,176...10,844,211
Ensembl chr20:10,838,452...10,838,799
JBrowse link
G SMG5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,579,716...7,618,060
Ensembl chr20:7,579,726...7,618,999
JBrowse link
G SNAPIN SNAP associated protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,147,577...10,150,721
Ensembl chr20:10,148,099...10,150,641
JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,997,768...12,083,929
Ensembl chr20:11,998,527...12,083,528
JBrowse link
G SPRR1A small proline rich protein 1A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,746,202...10,751,822
Ensembl chr20:10,746,517...10,746,786
JBrowse link
G SPRR1B small proline rich protein 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,696,266...10,699,361
Ensembl chr20:10,696,549...10,696,818
JBrowse link
G SPRR2G small proline rich protein 2G ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,602,861...10,617,406
Ensembl chr20:10,616,875...10,617,093
JBrowse link
G SPRR3 small proline rich protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:10,727,343...10,730,503
Ensembl chr20:10,727,669...10,728,196
JBrowse link
G SPRR4 small proline rich protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,844,461...7,856,869
Ensembl chr20:7,844,430...7,856,999
JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,993,426...8,019,256
Ensembl chr20:7,992,988...8,019,238
JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G TCHH trichohyalin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,529,328...11,545,510 JBrowse link
G TCHHL1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,562,589...11,568,863 JBrowse link
G TDRD10 tudor domain containing 10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,275,380...9,323,531
Ensembl chr20:9,275,969...9,319,327
JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:11,895,882...11,916,981
Ensembl chr20:11,896,380...11,916,031
JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,621,706...8,640,252
Ensembl chr20:8,622,812...8,640,532
JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,569,757...7,579,615
Ensembl chr20:7,566,538...7,579,605
JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,513,935...12,519,497
Ensembl chr20:12,515,429...12,519,402
JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,530,625...12,534,278
Ensembl chr20:12,531,052...12,533,694
JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,630,056...9,669,819
Ensembl chr20:9,638,678...9,653,039
JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,647,598...8,659,674
Ensembl chr20:8,648,373...8,658,600
JBrowse link
G TSACC TSSK6 activating cochaperone ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,509,738...7,518,637 JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,275,898...7,289,531
Ensembl chr20:7,275,064...7,281,253
JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,110,090...12,154,183
Ensembl chr20:12,109,717...12,154,201
JBrowse link
G UBAP2L ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,546,201...9,591,728
Ensembl chr20:9,545,581...9,591,659
JBrowse link
G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr20:9,264,456...9,273,550
Ensembl chr20:9,264,225...9,274,979
JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,811,275...7,829,782 JBrowse link
G VHLL VHL like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:7,563,857...7,564,909 JBrowse link
G VPS45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,498,627...12,513,838
Ensembl chr20:12,498,644...12,514,343
JBrowse link
G YY1AP1 YY1 associated protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G ZBTB7B zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:8,812,514...8,829,128
Ensembl chr20:8,812,351...8,817,286
JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr20:12,395,592...12,405,898 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 chr16:62,315,324...62,321,522
Ensembl chr16:62,315,624...62,321,512
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 chr20:8,767,836...8,779,399
Ensembl chr20:8,768,112...8,779,311
JBrowse link
G ADAMTSL4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329
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
G ANXA9 annexin A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G APH1A aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,489,562...9,506,229
Ensembl chr20:9,492,846...9,496,367
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 chr20:7,884,220...7,927,738
Ensembl chr20:7,905,662...7,930,657
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G ASH1L ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,290,606...8,499,991
Ensembl chr20:8,322,504...8,500,129
JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,466,397...9,491,705
Ensembl chr20:9,465,851...9,489,564
JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,203,546...7,221,108
Ensembl chr20:7,203,378...7,220,973
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,623,716...7,626,353
Ensembl chr20:7,623,883...7,624,812
JBrowse link
G BNIPL BCL2 interacting protein like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G C2CD4D C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,846,708...11,847,963
Ensembl chr20:11,846,792...11,847,853
JBrowse link
G CA14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,518,729...7,545,296
Ensembl chr20:7,518,846...7,545,677
JBrowse link
G CDC42SE1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,633,187...12,636,838
Ensembl chr16:41,319,304...41,319,540
Ensembl chr16:41,319,304...41,319,540
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 chr20:11,973,531...11,988,560
Ensembl chr20:11,981,181...11,992,302
JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G CFAP141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,615,258...9,622,816
Ensembl chr20:9,615,288...9,622,752
JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,155,782...12,183,849 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 chr20:9,245,803...9,255,430
Ensembl chr20:9,247,231...9,253,795
JBrowse link
G CHTOP chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,159,463...10,170,949
Ensembl chr20:10,154,734...10,170,883
JBrowse link
G CIART circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G CKS1B CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,849,411...8,854,022 JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,562,334...8,578,880 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 chr20:7,159,022...7,164,586
Ensembl chr20:7,159,238...7,164,163
JBrowse link
G CRCT1 cysteine rich C-terminal 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,184,616...11,187,345 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 chr20:9,839,137...9,848,413
Ensembl chr20:9,838,085...9,845,287
JBrowse link
G CRNN cornulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,280,298...11,285,906 JBrowse link
G CRTC2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,853,094...9,864,843
Ensembl chr20:9,853,481...9,865,083
JBrowse link
G CTSK cathepsin K ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G CTSS cathepsin S ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G CUNH1orf43 chromosome unknown C1orf43 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,601,210...9,617,238 JBrowse link
G CUNH1orf54 chromosome unknown C1orf54 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G CUNH1orf56 chromosome unknown C1orf56 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,122,440...8,174,665
Ensembl chr20:8,128,014...8,173,852
JBrowse link
G DCST1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,779,692...8,797,327
Ensembl chr20:8,779,754...8,797,306
JBrowse link
G DCST2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,797,630...8,812,512 JBrowse link
G DENND4B DENN domain containing 4B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,865,833...9,882,259
Ensembl chr20:9,868,106...9,881,465
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 chr20:8,689,727...8,690,430 JBrowse link
G ECM1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,695,446...8,702,556
Ensembl chr20:8,696,241...8,702,379
JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,742,383...8,751,275 JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,758,126...8,767,750
Ensembl chr20:8,761,883...8,766,830
JBrowse link
G ENSA endosulfine alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G ENTREP3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,578,983...8,587,181
Ensembl chr20:8,579,435...8,587,399
JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,514,311...8,526,363 JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,838,130...8,846,654
Ensembl chr20:8,837,892...8,846,043
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 chr20:12,558,951...12,623,941 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 chr20:9,888,586...10,003,215
Ensembl chr20:9,888,705...10,000,099
JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,598,110...8,631,517
Ensembl chr20:8,598,628...8,630,990
JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,566,424...7,572,018
Ensembl chr20:7,566,538...7,573,843
JBrowse link
G GOLPH3L golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,021,625...8,230,165
Ensembl chr20:8,025,074...8,127,097
JBrowse link
G GPATCH4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,260,385...7,268,112
Ensembl chr20:7,262,763...7,270,442
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 chr20:7,237,940...7,244,840
Ensembl chr20:7,238,281...7,240,183
JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,537,544...9,545,214
Ensembl chr20:9,537,525...9,545,299
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 chr20:8,546,609...8,558,911
Ensembl chr20:8,545,720...8,558,056
JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,109,133...7,122,715
Ensembl chr20:7,119,450...7,122,834
JBrowse link
G HORMAD1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G HRNR hornerin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,439,492...11,442,174 JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,345,723...9,418,963
Ensembl chr20:9,361,152...9,396,610
JBrowse link
G ILF2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,129,912...10,147,376 JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,008,882...7,029,377
Ensembl chr20:7,010,504...7,028,557
JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,037,176...10,085,499 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 chr20:7,286,819...7,334,352
Ensembl chr20:7,286,886...7,333,284
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 chr20:7,136,174...7,141,404
Ensembl chr20:7,136,956...7,141,140
JBrowse link
G IVL involucrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,809,528...10,814,646 JBrowse link
G JTB jumping translocation breakpoint ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,828,542...9,838,990
Ensembl chr20:9,829,085...9,838,819
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 chr20:8,961,833...9,124,728
Ensembl chr20:8,962,302...9,124,166
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 chr20:7,941,544...7,964,325
Ensembl chr20:7,941,613...7,963,603
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 chr20:10,991,430...10,994,306
Ensembl chr20:10,993,289...10,994,104
JBrowse link
G KPRP keratinocyte proline rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,955,183...10,959,767
Ensembl chr20:10,955,971...10,957,707
JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,659,239...8,666,375
Ensembl chr20:8,658,881...8,666,831
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 chr20:7,806,509...7,810,296
Ensembl chr20:7,806,510...7,810,456
JBrowse link
G LCE6A late cornified envelope 6A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,878,229...10,879,885
Ensembl chr20:10,878,566...10,878,805
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 chr20:10,550,088...10,552,203
Ensembl chr20:10,550,213...10,550,491
JBrowse link
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,836,074...8,838,034
Ensembl chr20:8,837,451...8,837,633
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 chr20:11,881,186...11,886,931
Ensembl chr20:11,884,472...11,886,253
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780
JBrowse link
G LOC103224000 late cornified envelope protein 3B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,088,496...11,090,742 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,494,570...10,497,944 JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,523,798...12,541,970
Ensembl chr20:12,524,487...12,529,496
JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,358,647...7,394,068
Ensembl chr20:7,358,653...7,396,972
JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,127,876...7,136,051
Ensembl chr20:7,123,538...7,135,961
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 chr20:7,781,766...7,793,373 JBrowse link
G MINDY1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G MIR9-1HG MIR9-1 host gene ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,421,888...7,457,737 JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,625,224...12,635,589
Ensembl chr20:12,626,214...12,626,486
JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,123,524...7,127,531 JBrowse link
G MRPL9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,922,230...11,961,387
Ensembl chr20:11,922,239...11,962,254
JBrowse link
G MRPS21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,109,520...8,112,635 JBrowse link
G MTMR11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G MTX1 metaxin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,617,321...8,621,899 JBrowse link
G MUC1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962
JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,267,885...7,270,440
Ensembl chr20:7,268,100...7,270,442
JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,185,208...7,193,964
Ensembl chr20:7,185,390...7,193,983
JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,115,319...10,131,933
Ensembl chr20:10,115,105...10,131,200
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670
JBrowse link
G NUP210L nucleoporin 210 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,671,203...9,821,257
Ensembl chr20:9,671,482...9,815,252
JBrowse link
G OAZ3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,916,163...11,922,770 JBrowse link
G OTUD7B OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,618,905...7,622,977
Ensembl chr20:7,620,224...7,622,884
JBrowse link
G PBXIP1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,872,492...8,884,029
Ensembl chr20:8,872,409...8,884,450
JBrowse link
G PGLYRP3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,445,996...10,459,908
Ensembl chr20:10,446,660...10,459,478
JBrowse link
G PGLYRP4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,406,242...10,422,989
Ensembl chr20:10,405,138...10,422,625
JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,358,758...12,395,372
Ensembl chr20:12,358,762...12,394,661
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 chr20:12,439,726...12,490,331 JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,540,228...8,547,184
Ensembl chr20:8,540,763...8,545,884
JBrowse link
G PLEKHO1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G PMF1 polyamine modulated factor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,627,084...7,655,751
Ensembl chr20:7,627,524...7,655,724
JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,893,297...8,906,882
Ensembl chr20:8,894,786...8,906,873
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 chr20:12,236,036...12,290,937
Ensembl chr20:12,236,145...12,290,956
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 chr20:7,068,711...7,099,745
Ensembl chr20:7,068,333...7,099,339
JBrowse link
G PRPF3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G PRR9 proline rich 9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,536,752...10,539,360
Ensembl chr20:10,537,569...10,537,916
JBrowse link
G PRUNE1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,291,727...12,294,120
Ensembl chr20:12,291,070...12,294,311
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 chr20:12,424,557...12,434,929 JBrowse link
G PYGO2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,866,928...8,871,645
Ensembl chr20:8,866,711...8,871,770
JBrowse link
G RAB13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,832,220...9,836,890 JBrowse link
G RAB25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,794,890...7,804,528
Ensembl chr20:7,794,884...7,804,246
JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,345,078...12,351,699
Ensembl chr20:12,345,063...12,352,646
JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,475,404...7,493,109
Ensembl chr20:7,475,438...7,492,629
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 chr20:11,960,766...11,969,119
Ensembl chr20:11,961,540...11,969,003
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,965,944...7,979,396
Ensembl chr20:7,966,057...7,976,819
JBrowse link
G RORC RAR related orphan receptor C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,854,911...11,880,221
Ensembl chr20:11,855,005...11,879,717
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
G RPS27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,821,812...9,823,267 JBrowse link
G RPTN repetin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,490,879...11,498,433 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 chr20:8,504,123...8,514,113
Ensembl chr20:8,503,727...8,513,519
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 chr20:7,930,719...7,933,422 JBrowse link
G S100A1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,172,916...10,176,905 JBrowse link
G S100A10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,690,580...11,701,561 JBrowse link
G S100A11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,613,171...11,617,711 JBrowse link
G S100A12 S100 calcium binding protein A12 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,377,418...10,379,638 JBrowse link
G S100A13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,177,062...10,186,382
Ensembl chr20:10,177,694...10,186,421
JBrowse link
G S100A14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,188,016...10,190,973
Ensembl chr20:10,188,866...10,190,979
JBrowse link
G S100A16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,192,117...10,198,257 JBrowse link
G S100A2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,238,870...10,243,072
Ensembl chr20:10,240,451...10,243,294
JBrowse link
G S100A3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,249,332...10,256,671
Ensembl chr20:10,255,515...10,256,318
JBrowse link
G S100A4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,258,142...10,260,390
Ensembl chr20:10,258,070...10,260,871
JBrowse link
G S100A5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,260,479...10,267,615
Ensembl chr20:10,263,814...10,266,685
JBrowse link
G S100A6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,267,708...10,269,361
Ensembl chr20:10,267,556...10,269,405
JBrowse link
G S100A7 S100 calcium binding protein A7 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,338,971...10,342,366 JBrowse link
G S100A8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,363,142...10,364,293
Ensembl chr20:10,363,287...10,364,317
JBrowse link
G S100A9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,391,965...10,395,216
Ensembl chr20:10,391,934...10,394,720
JBrowse link
G SCAMP3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,321,445...12,330,495
Ensembl chr20:12,321,292...12,330,746
JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,684,107...7,716,866
Ensembl chr20:7,683,994...7,708,741
JBrowse link
G SEMA6C semaphorin 6C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,542,234...12,557,041
Ensembl chr20:12,546,281...12,560,674
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
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,052,170...7,063,262
Ensembl chr20:7,052,797...7,062,324
JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,854,189...8,866,406
Ensembl chr20:8,858,458...8,866,610
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 chr20:9,324,123...9,358,509
Ensembl chr20:9,324,296...9,345,730
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 chr20:7,655,836...7,675,356
Ensembl chr20:7,655,834...7,675,190
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 chr20:10,031,007...10,037,082
Ensembl chr20:10,031,164...10,035,876
JBrowse link
G SLC39A1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,847,928...9,852,998
Ensembl chr20:9,847,968...9,853,413
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 chr20:8,691,479...8,694,993
Ensembl chr20:8,691,053...8,695,018
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 chr20:10,838,176...10,844,211
Ensembl chr20:10,838,452...10,838,799
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 chr20:7,579,716...7,618,060
Ensembl chr20:7,579,726...7,618,999
JBrowse link
G SNAPIN SNAP associated protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,147,577...10,150,721
Ensembl chr20:10,148,099...10,150,641
JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,997,768...12,083,929
Ensembl chr20:11,998,527...12,083,528
JBrowse link
G SPRR1A small proline rich protein 1A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,746,202...10,751,822
Ensembl chr20:10,746,517...10,746,786
JBrowse link
G SPRR1B small proline rich protein 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,696,266...10,699,361
Ensembl chr20:10,696,549...10,696,818
JBrowse link
G SPRR2G small proline rich protein 2G ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,602,861...10,617,406
Ensembl chr20:10,616,875...10,617,093
JBrowse link
G SPRR3 small proline rich protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:10,727,343...10,730,503
Ensembl chr20:10,727,669...10,728,196
JBrowse link
G SPRR4 small proline rich protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,844,461...7,856,869
Ensembl chr20:7,844,430...7,856,999
JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,993,426...8,019,256
Ensembl chr20:7,992,988...8,019,238
JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G TCHH trichohyalin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,529,328...11,545,510 JBrowse link
G TCHHL1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,562,589...11,568,863 JBrowse link
G TDRD10 tudor domain containing 10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,275,380...9,323,531
Ensembl chr20:9,275,969...9,319,327
JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:11,895,882...11,916,981
Ensembl chr20:11,896,380...11,916,031
JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,621,706...8,640,252
Ensembl chr20:8,622,812...8,640,532
JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,569,757...7,579,615
Ensembl chr20:7,566,538...7,579,605
JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,513,935...12,519,497
Ensembl chr20:12,515,429...12,519,402
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 chr20:12,530,625...12,534,278
Ensembl chr20:12,531,052...12,533,694
JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,630,056...9,669,819
Ensembl chr20:9,638,678...9,653,039
JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,647,598...8,659,674
Ensembl chr20:8,648,373...8,658,600
JBrowse link
G TSACC TSSK6 activating cochaperone ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,509,738...7,518,637 JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,275,898...7,289,531
Ensembl chr20:7,275,064...7,281,253
JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,110,090...12,154,183
Ensembl chr20:12,109,717...12,154,201
JBrowse link
G UBAP2L ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,546,201...9,591,728
Ensembl chr20:9,545,581...9,591,659
JBrowse link
G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:9,264,456...9,273,550
Ensembl chr20:9,264,225...9,274,979
JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,811,275...7,829,782 JBrowse link
G VHLL VHL like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:7,563,857...7,564,909 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...
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,498,627...12,513,838
Ensembl chr20:12,498,644...12,514,343
JBrowse link
G YY1AP1 YY1 associated protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G ZBTB7B zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:8,812,514...8,829,128
Ensembl chr20:8,812,351...8,817,286
JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr20:12,395,592...12,405,898 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 chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546
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 chr22:45,895,455...45,917,236
Ensembl chr22:45,895,249...45,910,658
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 chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712
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 chr22:45,990,708...46,015,697
Ensembl chr22:45,987,731...46,015,712
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 chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713
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 chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392
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 chr22:45,944,385...45,960,188
Ensembl chr22:45,944,669...45,960,164
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 chr22:45,929,339...45,943,749 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 chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250
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 chr22:45,970,474...45,978,764
Ensembl chr22:45,971,148...45,975,076
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 chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428
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 chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618
JBrowse link
severe congenital neutropenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant OMIM
ClinVar
PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr24:11,802,671...11,846,534
Ensembl chr24:11,812,672...11,846,675
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 chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105
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 chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309
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 chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr10:20,120,999...20,202,019
Ensembl chr10:20,119,914...20,201,991
JBrowse link
G LCT lactase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr10:19,994,398...20,049,325
Ensembl chr10:19,994,384...20,049,097
JBrowse link
G MCM6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr10:20,053,726...20,089,571
Ensembl chr10:20,051,138...20,089,545
JBrowse link
G R3HDM1 R3H domain containing 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr10:19,739,973...19,935,345
Ensembl chr10:19,793,843...19,935,343
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 chr10:19,295,294...19,401,595
Ensembl chr10:19,295,351...19,402,212
JBrowse link
G UBXN4 UBX domain protein 4 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr10:19,949,704...19,990,913
Ensembl chr10:19,949,788...19,990,383
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 chr10:19,428,139...19,739,886
Ensembl chr10:19,427,652...19,572,384
JBrowse link
WHIM Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103217855 C-X-C chemokine receptor type 2 ISO ClinVar Annotator: match by term: WHIM syndrome 2 OMIM
ClinVar
PMID:24777453 PMID:25741868 NCBI chr10:104,012,906...104,025,599
Ensembl chr10:104,022,811...104,023,893
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:45,912,638...45,920,415
Ensembl chr  X:45,917,231...45,920,268
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:47,046,209...47,056,961
Ensembl chr  X:47,046,240...47,056,319
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:47,713,434...47,722,818
Ensembl chr  X:47,713,957...47,719,777
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:46,304,831...46,330,562 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:46,161,238...46,178,128
Ensembl chr  X:46,170,651...46,177,244
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:46,330,215...46,349,978
Ensembl chr  X:46,335,095...46,353,583
JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:47,059,747...47,142,911
Ensembl chr  X:47,085,605...47,142,788
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:44,405,672...44,416,478
Ensembl chr  X:44,410,598...44,416,818
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,772,176...46,934,886
Ensembl chr  X:46,772,305...46,927,861
JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:47,156,308...47,265,027
Ensembl chr  X:47,156,317...47,264,824
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:45,652,398...45,660,551
Ensembl chr  X:45,653,356...45,660,291
JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725
JBrowse link
G ELK1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:45,955,444...45,957,170
Ensembl chr  X:45,955,803...45,956,504
JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,349,890...46,365,133 JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:45,606,922...45,617,172
Ensembl chr  X:45,606,948...45,617,212
JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:45,912,638...45,920,415
Ensembl chr  X:45,917,231...45,920,268
JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:45,888,220...45,900,316
Ensembl chr  X:45,888,509...45,900,095
JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,212,415...46,227,315
Ensembl chr  X:46,209,373...46,227,250
JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,093,225...46,120,097
Ensembl chr  X:46,091,584...46,120,097
JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:45,927,625...45,951,636
Ensembl chr  X:45,928,092...45,952,929
JBrowse link
G JADE3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:44,119,480...44,266,268
Ensembl chr  X:44,192,385...44,266,329
JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,080,116...46,092,125
Ensembl chr  X:46,081,711...46,089,762
JBrowse link
G LOC103231893 synapsin-1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:44,748,994...44,797,053
Ensembl chr  X:44,750,046...44,797,009
JBrowse link
G LOC103231895 serine/threonine-protein kinase A-Raf 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:44,738,406...44,748,996
Ensembl chr  X:44,740,181...44,748,550
JBrowse link
G LOC103231897 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:44,801,388...44,807,177
Ensembl chr  X:44,801,354...44,807,402
JBrowse link
G LOC103231905 sperm acrosome-associated protein 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:45,170,226...45,175,615 JBrowse link
G MAGIX MAGI family member, X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,260,076...46,264,187
Ensembl chr  X:46,260,137...46,263,687
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:44,336,626...44,339,635
Ensembl chr  X:44,336,285...44,340,109
JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,041,348...46,077,195 JBrowse link
G PAGE1 PAGE family member 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,521,148...46,527,310
Ensembl chr  X:46,521,157...46,527,310
JBrowse link
G PAGE4 PAGE family member 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,595,642...46,680,133
Ensembl chr  X:46,676,607...46,678,837
JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:45,957,760...45,962,588
Ensembl chr  X:45,957,715...45,962,601
JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,032,640...46,040,220 JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,267,194...46,270,538 JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:45,639,836...45,652,301
Ensembl chr  X:45,640,125...45,651,974
JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,369,087...46,387,335
Ensembl chr  X:46,369,190...46,387,401
JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,014,664...46,020,204
Ensembl chr  X:46,015,250...46,023,988
JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,179,842...46,182,769
Ensembl chr  X:46,179,835...46,183,552
JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,271,001...46,286,440
Ensembl chr  X:46,266,985...46,283,689
JBrowse link
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:44,339,653...44,373,509
Ensembl chr  X:44,339,877...44,373,339
JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:45,702,974...45,707,064
Ensembl chr  X:45,702,275...45,707,075
JBrowse link
G RGN regucalcin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:44,282,825...44,299,027
Ensembl chr  X:44,285,601...44,299,258
JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:44,048,319...44,090,011
Ensembl chr  X:44,048,317...44,089,988
JBrowse link
G SHROOM4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:47,392,156...47,618,816
Ensembl chr  X:47,397,570...47,616,973
JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:46,020,241...46,030,205
Ensembl chr  X:46,017,681...46,030,200
JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:45,588,992...45,598,771