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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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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 chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15999287 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:SNP: :6672G>C (human) RGD PMID:20868635 RGD:11041752 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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 chrNW_004624756:21,857,048...21,869,657
Ensembl chrNW_004624756:21,857,721...21,867,727
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 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chrNW_004624817:4,593,823...4,735,573
Ensembl chrNW_004624817:4,593,639...4,735,091
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 chrNW_004624817:4,863,426...4,866,452
Ensembl chrNW_004624817:4,864,670...4,866,452
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 chrNW_004624817:4,200,725...4,259,732
Ensembl chrNW_004624817:4,200,525...4,262,638
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 chrNW_004624817:3,582,665...3,641,258
Ensembl chrNW_004624817:3,579,841...3,640,801
JBrowse link
G Arrb1 arrestin beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,750,448...1,828,399
Ensembl chrNW_004624817:1,750,156...1,823,309
JBrowse link
G Atg16l2 autophagy related 16 like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,123,963...4,153,720
Ensembl chrNW_004624817:4,140,543...4,147,597
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 chrNW_004624817:2,880,775...3,060,399
Ensembl chrNW_004624817:2,880,976...3,042,004
JBrowse link
G Chrdl2 chordin like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,388,583...2,419,841
Ensembl chrNW_004624817:2,388,601...2,419,939
JBrowse link
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chrNW_004624817:4,593,823...4,735,573
Ensembl chrNW_004624817:4,593,639...4,735,091
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624767:16,118,157...16,132,225
Ensembl chrNW_004624767:16,118,052...16,132,834
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 chrNW_004624817:3,078,578...3,093,273
Ensembl chrNW_004624817:3,077,086...3,093,117
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 chrNW_004624817:3,367,402...3,553,275
Ensembl chrNW_004624817:3,474,230...3,550,714
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 chrNW_004624817:3,819,124...4,134,757
Ensembl chrNW_004624817:3,819,178...4,135,044
JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,830,164...4,850,565
Ensembl chrNW_004624817:4,820,163...4,851,339
JBrowse link
G Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,596,687...1,689,428
Ensembl chrNW_004624817:1,596,684...1,688,566
JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,963,586...4,967,122
Ensembl chrNW_004624817:4,964,403...4,965,944
JBrowse link
G Inppl1 inositol polyphosphate phosphatase like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,779,875...4,794,644
Ensembl chrNW_004624817:4,779,057...4,793,732
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 chrNW_004624817:2,593,649...2,607,462
Ensembl chrNW_004624817:2,513,539...2,606,682
JBrowse link
G Klhl35 kelch like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,694,399...1,703,169
Ensembl chrNW_004624817:1,694,402...1,702,413
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 chrNW_004624817:4,872,630...4,879,217
Ensembl chrNW_004624817:4,872,672...4,890,791
JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,573,459...2,575,259
Ensembl chrNW_004624817:2,573,479...2,575,259
JBrowse link
G LOC101715323 cytochrome c oxidase assembly factor 4 homolog, mitochondrial ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,136,847...3,141,526
Ensembl chrNW_004624817:3,137,630...3,141,520
JBrowse link
G LOC101721569 folate receptor gamma ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532
G Mrpl48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,145,267...3,203,182
Ensembl chrNW_004624817:3,140,573...3,211,291
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624767:16,069,895...16,115,029
Ensembl chrNW_004624767:16,069,780...16,115,162
JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,107,893...2,133,626 JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,896,066...4,963,440
Ensembl chrNW_004624817:4,924,827...4,963,436
JBrowse link
G P2ry2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,706,017...3,721,045
Ensembl chrNW_004624817:3,706,017...3,719,649
JBrowse link
G P2ry6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,648,829...3,672,051
Ensembl chrNW_004624817:3,648,829...3,671,852
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 chrNW_004624817:2,780,201...2,826,046
Ensembl chrNW_004624817:2,780,209...2,815,240
JBrowse link
G Paaf1 proteasomal ATPase associated factor 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,104,058...3,137,532
Ensembl chrNW_004624817:3,104,659...3,137,446
JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,269,422...4,367,576
Ensembl chrNW_004624817:4,269,347...4,369,486
JBrowse link
G Pgm2l1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,664,227...2,761,141
Ensembl chrNW_004624817:2,664,516...2,755,867
JBrowse link
G Phox2a paired like homeobox 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,775,176...4,779,694
Ensembl chrNW_004624817:4,775,258...4,779,303
JBrowse link
G Plekhb1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,324,394...3,336,696
Ensembl chrNW_004624817:3,323,743...3,338,257
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 chrNW_004624817:2,465,809...2,538,723
Ensembl chrNW_004624817:2,467,803...2,513,267
JBrowse link
G Ppme1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,827,249...2,880,545
Ensembl chrNW_004624817:2,826,715...2,880,597
JBrowse link
G Rab6a RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,241,636...3,307,331
Ensembl chrNW_004624817:3,241,323...3,307,269
JBrowse link
G Relt RELT TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,555,676...3,575,873
Ensembl chrNW_004624817:3,557,002...3,575,933
JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,968,790...5,051,573
Ensembl chrNW_004624817:4,968,684...5,051,871
JBrowse link
G Rnf169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,272,874...2,371,168
Ensembl chrNW_004624817:2,277,222...2,371,105
JBrowse link
G Rps3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,710,768...1,715,923
Ensembl chrNW_004624817:1,710,768...1,716,224
JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,561,471...1,570,425
Ensembl chrNW_004624817:1,561,471...1,570,947
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 chrNW_004624817:1,879,710...1,943,430
Ensembl chrNW_004624817:1,881,327...1,931,186
JBrowse link
G Spcs2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,149,021...2,174,575
Ensembl chrNW_004624817:2,148,916...2,175,222
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 chrNW_004624817:4,174,867...4,198,785
Ensembl chrNW_004624817:4,171,599...4,200,415
JBrowse link
G Tpbgl trophoblast glycoprotein like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,846,286...1,850,672
Ensembl chrNW_004624817:1,849,056...1,850,225
JBrowse link
G Ucp2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,067,358...3,075,045
Ensembl chrNW_004624817:3,067,320...3,075,043
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 chrNW_004624817:2,174,599...2,271,509
Ensembl chrNW_004624817:2,181,901...2,268,478
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 chrNW_004624817:4,593,823...4,735,573
Ensembl chrNW_004624817:4,593,639...4,735,091
JBrowse link
Chemotherapy-Induced Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme severity ISO DNA:deletion:intron:IVS16+1464-1751del (human)
associated with acute leukemia;DNA:insertion/deletion:intron 16:
RGD PMID:15806540 PMID:24819208 RGD:11038917 RGD:11530041 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
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 chrNW_004624826:51,387...59,117 JBrowse link
G Itpa inosine triphosphatase ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chrNW_004624741:4,312,363...4,341,996
Ensembl chrNW_004624741:4,312,360...4,325,825
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 chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
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 chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
JBrowse link
cyclic hematopoiesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,572,821...7,592,428
Ensembl chrNW_004624828:7,573,130...7,591,038
JBrowse link
G Abhd17a abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:6,915,126...6,923,433
Ensembl chrNW_004624828:6,917,061...6,923,433
JBrowse link
G Adamtsl5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,192,160...7,201,832
Ensembl chrNW_004624828:7,192,191...7,199,035
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 chrNW_004624869:2,459,370...2,741,529
Ensembl chrNW_004624869:2,459,947...2,741,328
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:6,710,081...6,750,315
Ensembl chrNW_004624828:6,710,025...6,749,434
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,220,768...7,247,395
Ensembl chrNW_004624828:7,223,251...7,247,421
JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,557,878...7,572,700
Ensembl chrNW_004624828:7,558,355...7,570,863
JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,636,211...7,666,868
Ensembl chrNW_004624828:7,635,383...7,666,416
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,429,915...7,432,898
Ensembl chrNW_004624828:7,429,915...7,432,562
JBrowse link
G Atp8b3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:6,976,451...6,994,152
Ensembl chrNW_004624828:6,976,466...6,994,267
JBrowse link
G Btbd2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:6,815,966...6,828,233 JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,435,633...7,444,483
Ensembl chrNW_004624828:7,437,564...7,443,353
JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,714,926...7,717,139
Ensembl chrNW_004624828:7,711,537...7,717,337
JBrowse link
G Cirbp cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,401,123...7,409,275
Ensembl chrNW_004624828:7,401,456...7,409,408
JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,594,995...7,601,639
Ensembl chrNW_004624828:7,593,116...7,601,680
JBrowse link
G Csnk1g2 casein kinase 1 gamma 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:6,832,157...6,859,244
Ensembl chrNW_004624828:6,833,114...6,839,914
JBrowse link
G CUNH19orf25 chromosome unknown C19orf25 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,217,567...7,220,839
Ensembl chrNW_004624828:7,217,890...7,219,253
JBrowse link
G Dazap1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,258,582...7,283,931
Ensembl chrNW_004624828:7,254,361...7,284,006
JBrowse link
G Efna2 ephrin A2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,380,675...7,393,322
Ensembl chrNW_004624828:7,380,554...7,393,376
JBrowse link
G Fam174c family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,398,243...7,400,937
Ensembl chrNW_004624828:7,398,243...7,401,041
JBrowse link
G Fgf22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,866,886...7,870,038
Ensembl chrNW_004624828:7,867,535...7,869,937
JBrowse link
G Fstl3 follistatin like 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,842,903...7,848,181
Ensembl chrNW_004624828:7,843,906...7,848,134
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,294,380...7,297,787
Ensembl chrNW_004624828:7,294,327...7,297,303
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,534,251...7,536,675
Ensembl chrNW_004624828:7,534,449...7,536,586
JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,614,656...7,622,111
Ensembl chrNW_004624828:7,614,672...7,622,111
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 chrNW_004624828:7,889,616...7,908,855
Ensembl chrNW_004624828:7,889,025...7,908,639
JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:6,751,736...6,754,746
Ensembl chrNW_004624828:6,751,884...6,754,688
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,677,467...7,680,508
Ensembl chrNW_004624828:7,677,395...7,680,355
JBrowse link
G Klf16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:6,933,480...6,944,238
Ensembl chrNW_004624828:6,933,630...6,942,347
JBrowse link
G LOC101715199 neutrophil elastase 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 chrNW_004624828:7,720,020...7,722,842 JBrowse link
G LOC101726493 cytochrome b-c1 complex subunit 10 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,123,371...7,127,341
Ensembl chrNW_004624828:7,123,392...7,127,337
JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,132,228...7,144,599
Ensembl chrNW_004624828:7,132,274...7,144,964
JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,695,401...7,713,603
Ensembl chrNW_004624828:7,695,316...7,713,603
JBrowse link
G Mex3d mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,149,766...7,157,689
Ensembl chrNW_004624828:7,146,823...7,157,745
JBrowse link
G Midn midnolin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,417,157...7,427,331
Ensembl chrNW_004624828:7,415,288...7,425,608
JBrowse link
G Misp mitotic spindle positioning ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,800,424...7,812,035 JBrowse link
G Mknk2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:6,788,069...6,801,370 JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:6,755,018...6,771,614
Ensembl chrNW_004624828:6,755,059...6,771,961
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,298,290...7,307,113
Ensembl chrNW_004624828:7,294,327...7,306,814
JBrowse link
G Onecut3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:6,998,099...7,016,844
Ensembl chrNW_004624828:6,999,453...7,016,844
JBrowse link
G Palm paralemmin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,812,108...7,833,986
Ensembl chrNW_004624828:7,811,199...7,834,011
JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,208,995...7,216,188 JBrowse link
G Plk5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,172,286...7,181,564 JBrowse link
G Plppr3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,740,766...7,750,608
Ensembl chrNW_004624828:7,741,126...7,753,973
JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,547,401...7,553,282
Ensembl chrNW_004624828:7,547,460...7,553,282
JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,876,682...7,888,990
Ensembl chrNW_004624828:7,876,739...7,888,923
JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,750,419...7,762,645
Ensembl chrNW_004624828:7,750,323...7,762,589
JBrowse link
G Pwwp3a PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,309,629...7,334,165
Ensembl chrNW_004624828:7,309,119...7,334,176
JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,682,770...7,691,215
Ensembl chrNW_004624828:7,682,754...7,692,778
JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,202,911...7,208,169
Ensembl chrNW_004624828:7,202,984...7,208,408
JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:6,948,422...6,973,588
Ensembl chrNW_004624828:6,948,568...6,972,936
JBrowse link
G Rnf126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,856,822...7,865,644
Ensembl chrNW_004624828:7,856,470...7,869,926
JBrowse link
G Rps15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,252,123...7,254,537
Ensembl chrNW_004624828:7,252,123...7,254,441
JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,479,695...7,532,961
Ensembl chrNW_004624828:7,478,970...7,537,428
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298
JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428
JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,606,177...7,614,644
Ensembl chrNW_004624828:7,606,339...7,614,107
JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004624828:7,623,720...7,631,540
Ensembl chrNW_004624828:7,625,484...7,631,512
JBrowse link
Drug-Induced Agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 treatment ISO associated with Graves Disease;
associated with Multiple Myeloma;
RGD PMID:8935143 PMID:15785251 RGD:11039034 RGD:11039041 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Leukemia;protein:decreased expression:serum: RGD PMID:8698137 RGD:11528539 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
JBrowse link
Drug-induced Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 no_association
susceptibility
ISO associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295 PMID:23188068 RGD:11080980 RGD:11080999 NCBI chrNW_004624737:11,593,701...11,686,790
Ensembl chrNW_004624737:11,593,864...11,688,460
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 chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594
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 chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373
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 chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor treatment ISO associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) RGD PMID:28924235 RGD:153323316 NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115
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 chrNW_004624826:51,387...59,117 JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain ISO RGD PMID:27400856 RGD:14928329 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit treatment ISO associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) RGD PMID:28924235 RGD:153323316 NCBI chrNW_004624832:4,117,597...4,135,092
Ensembl chrNW_004624832:4,117,341...4,135,035
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 chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
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 chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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 ClinVar
OMIM
PMID:25741868 PMID:27913302 PMID:28492532 NCBI chrNW_004624784:14,427,297...14,439,027
Ensembl chrNW_004624784:14,427,130...14,439,038
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 chrNW_004624755:21,090,599...21,124,107
Ensembl chrNW_004624755:21,090,717...21,123,259
JBrowse link
neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624746:378,123...576,809
Ensembl chrNW_004624746:461,933...577,050
JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO RGD PMID:12125811 RGD:1578409 NCBI chrNW_004624869:2,459,370...2,741,529
Ensembl chrNW_004624869:2,459,947...2,741,328
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chrNW_004624946:885,400...902,082
Ensembl chrNW_004624946:884,685...902,365
JBrowse link
G C5ar1 complement C5a receptor 1 ISO RGD PMID:10516626 RGD:5130180 NCBI chrNW_004624832:6,413,169...6,423,394
Ensembl chrNW_004624832:6,414,587...6,423,394
JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chrNW_004624946:311,291...322,546
Ensembl chrNW_004624946:311,594...322,530
JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624772:16,178,080...16,241,869
Ensembl chrNW_004624772:16,178,139...16,241,624
JBrowse link
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More... NCBI chrNW_004624817:4,593,823...4,735,573
Ensembl chrNW_004624817:4,593,639...4,735,091
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 chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:7524159 PMID:7529132 PMID:7543699 PMID:7688884 PMID:9740541 More... RGD:11039039 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594
JBrowse link
G CUNH16orf92 chromosome unknown C16orf92 homolog ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624782:13,212,195...13,214,166 JBrowse link
G Ephx1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624835:6,161,930...6,181,016
Ensembl chrNW_004624835:6,162,111...6,168,714
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:SNP:cds:p.R131H (human) RGD PMID:11295474 RGD:11040988 NCBI chrNW_004624826:23,930...34,735 JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chrNW_004624826:97,605...112,101 JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO DNA:mutation:exon: RGD PMID:11810106 PMID:22684987 RGD:11040449 RGD:11040456 NCBI chrNW_004624742:5,260,651...5,271,908
Ensembl chrNW_004624742:5,261,537...5,270,695
JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 PMID:32581362 NCBI chrNW_004624885:3,039,711...3,042,702
Ensembl chrNW_004624885:3,039,256...3,042,362
JBrowse link
G Hoxd13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chrNW_004624787:13,233,932...13,237,210
Ensembl chrNW_004624787:13,233,932...13,238,503
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
JBrowse link
G Itgam integrin subunit alpha M ISO associated with Brain Contusion RGD PMID:8835801 RGD:329901911 NCBI chrNW_004624782:14,316,505...14,367,841
Ensembl chrNW_004624782:14,318,499...14,367,922
JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624737:3,835,788...3,874,360 JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624732:14,102,543...14,144,479
Ensembl chrNW_004624732:14,102,543...14,144,722
JBrowse link
G LOC101715199 neutrophil elastase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:9536098 PMID:10581030 PMID:17576681 PMID:20049848 PMID:23463630 More... NCBI chrNW_004624828:7,720,020...7,722,842 JBrowse link
G Mki67 marker of proliferation Ki-67 ISO protein:increased expression:blood, T cell RGD PMID:22092365 RGD:6483522 NCBI chrNW_004624737:18,935,686...18,963,907 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19391036 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
JBrowse link
G Muc16 mucin 16, cell surface associated ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624828:1,510,104...1,579,727 JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chrNW_004624817:5,125,658...5,245,453
Ensembl chrNW_004624817:5,123,977...5,245,286
JBrowse link
G Pkp3 plakophilin 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624766:22,015,928...22,024,313
Ensembl chrNW_004624766:22,015,928...22,022,840
JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624772:17,196,418...17,212,265
Ensembl chrNW_004624772:17,196,388...17,212,727
JBrowse link
G Ptafr platelet activating factor receptor treatment ISO RGD PMID:3011900 RGD:10043179 NCBI chrNW_004624764:11,996,454...12,025,751
Ensembl chrNW_004624764:11,998,657...11,999,685
JBrowse link
G Rnf128 ring finger protein 128 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chrNW_004624803:10,019,526...10,133,155
Ensembl chrNW_004624803:10,019,424...10,133,234
JBrowse link
G Rps14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chrNW_004624774:9,727,216...9,733,114
Ensembl chrNW_004624774:9,726,434...9,733,410
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901
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 chrNW_004624849:1,354,821...1,367,269
Ensembl chrNW_004624849:1,354,822...1,367,217
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 chrNW_004624802:11,645,851...11,662,812
Ensembl chrNW_004624802:11,648,020...11,660,216
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 chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
JBrowse link
G Tle2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624828:6,131,418...6,149,388
Ensembl chrNW_004624828:6,131,452...6,149,377
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:15986200 RGD:1580321 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
JBrowse link
G Tpmt thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18662289 NCBI chrNW_004624756:8,511,275...8,532,100
Ensembl chrNW_004624756:8,511,315...8,531,745
JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624781:8,918,532...9,016,022
Ensembl chrNW_004624781:8,918,526...9,016,070
JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624741:3,959,561...3,991,191
Ensembl chrNW_004624741:3,959,363...3,991,191
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chrNW_004624738:13,116,317...13,180,935
Ensembl chrNW_004624738:13,115,982...13,181,352
JBrowse link
G Zc3h3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004624735:13,230,576...13,320,068
Ensembl chrNW_004624735:13,230,642...13,319,666
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 chrNW_004624742:5,260,651...5,271,908
Ensembl chrNW_004624742:5,261,537...5,270,695
JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:22133767 RGD:11038657 NCBI chrNW_004624751:624,569...647,198 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 chrNW_004624746:28,152,239...28,166,062
Ensembl chrNW_004624746:28,151,208...28,166,438
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 chrNW_004624764:19,356,848...19,396,209
Ensembl chrNW_004624764:19,356,361...19,367,860
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 chrNW_004624764:19,356,848...19,396,209
Ensembl chrNW_004624764:19,356,361...19,367,860
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 chrNW_004624908:1,327,569...1,340,741
Ensembl chrNW_004624908:1,327,602...1,340,240
JBrowse link
G G6pc3 glucose-6-phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chrNW_004624795:838,786...843,465
Ensembl chrNW_004624795:838,681...842,883
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 chrNW_004624742:5,260,651...5,271,908
Ensembl chrNW_004624742:5,261,537...5,270,695
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 chrNW_004624885:3,039,711...3,042,702
Ensembl chrNW_004624885:3,039,256...3,042,362
JBrowse link
G LOC101715199 neutrophil elastase ISO DNA:mutation:intron:c.597+1G>A (human)
mRNA:decreased expression:myeloid CD33+ cell:
DNA:mutations: :
RGD PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599 RGD:10450514 RGD:10450519 RGD:10450525 RGD:1598891 NCBI chrNW_004624828:7,720,020...7,722,842 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 chrNW_004624767:18,809,626...18,820,360
Ensembl chrNW_004624767:18,809,689...18,820,390
JBrowse link
severe congenital neutropenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101715199 neutrophil elastase 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 chrNW_004624828:7,720,020...7,722,842 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 chrNW_004624767:18,809,626...18,820,360
Ensembl chrNW_004624767:18,809,689...18,820,390
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 chrNW_004624763:6,101,943...6,866,457
Ensembl chrNW_004624763:6,102,674...6,864,817
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 chrNW_004624801:5,982,870...5,987,756
Ensembl chrNW_004624801:5,983,254...5,985,596
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 chrNW_004624801:5,931,332...5,978,656
Ensembl chrNW_004624801:5,928,628...5,978,879
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 chrNW_004624961:466,234...477,880
Ensembl chrNW_004624961:467,656...477,884
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 chrNW_004624817:4,593,823...4,735,573
Ensembl chrNW_004624817:4,593,639...4,735,091
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 chrNW_004624742:4,863,045...4,972,977 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 chrNW_004624742:5,007,691...5,241,158 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 chrNW_004624742:5,260,651...5,271,908
Ensembl chrNW_004624742:5,261,537...5,270,695
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624742:4,973,229...4,983,361 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 chrNW_004624885:2,441,298...2,451,061
Ensembl chrNW_004624885:2,441,217...2,451,057
JBrowse link
G Adamtsl4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,264,521...18,275,497
Ensembl chrNW_004624772:18,267,719...18,275,597
JBrowse link
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693
JBrowse link
G Anp32e acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:17,965,947...17,981,870 JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,827,061...18,848,683
Ensembl chrNW_004624772:18,827,061...18,842,457
JBrowse link
G Aph1a aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,018,852...18,022,431
Ensembl chrNW_004624772:18,018,896...18,022,508
JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004624885:3,014,853...3,032,920
Ensembl chrNW_004624885:3,014,351...3,022,248
JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,314,885...1,362,730
Ensembl chrNW_004624885:1,311,512...1,362,730
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,949,221...19,016,672
Ensembl chrNW_004624772:18,949,108...19,015,504
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:961,880...1,136,990
Ensembl chrNW_004624885:961,880...1,136,731
JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004624885:2,995,379...3,014,207
Ensembl chrNW_004624885:2,994,020...3,012,995
JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,816,591...1,829,971
Ensembl chrNW_004624885:1,820,105...1,832,510
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109
JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,780,646...18,790,781
Ensembl chrNW_004624772:18,780,652...18,790,128
JBrowse link
G C2cd4d C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,506,927...19,508,062
Ensembl chrNW_004624772:19,507,028...19,508,062
JBrowse link
G Ca14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,011,094...18,018,585
Ensembl chrNW_004624772:18,012,280...18,022,508
JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,575,560...1,592,540
Ensembl chrNW_004624885:1,575,562...1,592,594
JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,768,765...18,774,859
Ensembl chrNW_004624772:18,768,827...18,774,859
JBrowse link
G Celf3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,389,147...19,403,100
Ensembl chrNW_004624772:19,387,827...19,403,094
JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,851,681...18,855,267
Ensembl chrNW_004624772:18,851,612...18,855,255
JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,222,475...19,249,418 JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004624885:2,839,607...2,851,934
Ensembl chrNW_004624885:2,843,899...2,848,522
JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,501,468...3,511,481
Ensembl chrNW_004624885:3,501,470...3,511,451
JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,036,407...18,040,571
Ensembl chrNW_004624772:18,037,066...18,040,692
JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,507,462...2,510,842
Ensembl chrNW_004624885:2,507,462...2,510,818
JBrowse link
G Clk2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,285,116...2,295,959
Ensembl chrNW_004624885:2,284,953...2,296,735
JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,862,911...1,867,656
Ensembl chrNW_004624885:1,862,822...1,867,726
JBrowse link
G Creb3l4 cAMP responsive element binding protein 3 like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,249,747...3,255,210
Ensembl chrNW_004624885:3,250,116...3,254,634
JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,265,079...3,276,594
Ensembl chrNW_004624885:3,264,983...3,277,459
JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,013,189...19,026,756
Ensembl chrNW_004624772:19,015,835...19,025,588
JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,421,905...18,446,857
Ensembl chrNW_004624772:18,419,736...18,438,786
JBrowse link
G CUNH1orf54 chromosome unknown C1orf54 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,024,288...18,034,457
Ensembl chrNW_004624772:18,024,149...18,034,506
JBrowse link
G CUNH1orf56 chromosome unknown C1orf56 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:166,801...169,260 JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,135,770...1,170,447
Ensembl chrNW_004624885:1,137,191...1,170,139
JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,451,247...2,465,459
Ensembl chrNW_004624885:2,451,404...2,465,397
JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,465,530...2,474,418
Ensembl chrNW_004624885:2,465,636...2,471,722
JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,277,793...3,291,701
Ensembl chrNW_004624885:3,278,578...3,290,980
JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,377,850...2,378,390
Ensembl chrNW_004624885:2,377,880...2,378,390
JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,234,537...18,239,896
Ensembl chrNW_004624772:18,233,727...18,240,601
JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,382,712...2,388,805
Ensembl chrNW_004624885:2,383,045...2,389,107
JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,420,610...2,428,048
Ensembl chrNW_004624885:2,421,467...2,428,011
JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,436,629...2,440,196
Ensembl chrNW_004624885:2,436,535...2,440,200
JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,327,206...18,335,422
Ensembl chrNW_004624772:18,327,865...18,335,870
JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,301,637...2,307,839
Ensembl chrNW_004624885:2,302,530...2,307,299
JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:942,998...949,529
Ensembl chrNW_004624885:943,571...949,528
JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,496,448...2,503,277
Ensembl chrNW_004624885:2,496,448...2,503,180
JBrowse link
G Gabpb2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,726,903...18,760,307 JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,297,191...3,375,908
Ensembl chrNW_004624885:3,362,823...3,375,179
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,315,371...2,321,327
Ensembl chrNW_004624885:2,315,142...2,321,327
JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,568,096...1,571,001
Ensembl chrNW_004624885:1,568,551...1,570,924
JBrowse link
G Golph3l golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,342,613...18,378,037
Ensembl chrNW_004624772:18,342,520...18,377,653
JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,179,033...1,246,592 JBrowse link
G Gpatch4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,783,892...1,793,074 JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,799,303...1,805,977
Ensembl chrNW_004624885:1,798,904...1,805,318
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 chrNW_004624885:3,039,711...3,042,702
Ensembl chrNW_004624885:3,039,256...3,042,362
JBrowse link
G Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,271,991...2,281,575
Ensembl chrNW_004624885:2,272,935...2,281,588
JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,900,835...1,910,886 JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,379,154...18,403,456
Ensembl chrNW_004624772:18,379,745...18,403,745
JBrowse link
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004624885:2,910,367...2,946,916
Ensembl chrNW_004624885:2,910,112...2,946,886
JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,483,385...3,490,157
Ensembl chrNW_004624885:3,483,462...3,493,805
JBrowse link
G Insrr insulin receptor related receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,971,442...1,987,595
Ensembl chrNW_004624885:1,971,345...1,987,231
JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,403,614...3,442,170
Ensembl chrNW_004624885:3,401,899...3,442,227
JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,730,079...1,765,250
Ensembl chrNW_004624885:1,730,771...1,765,180
JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,878,939...1,885,743
Ensembl chrNW_004624885:1,874,331...1,885,001
JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:375,035...375,967 JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,247,502...3,249,658
Ensembl chrNW_004624885:3,247,516...3,249,840
JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,597,605...2,731,598
Ensembl chrNW_004624885:2,597,466...2,726,363
JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,285,461...1,306,207
Ensembl chrNW_004624885:1,285,465...1,306,193
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 chrNW_004624885:210,725...211,797
Ensembl chrNW_004624885:210,725...211,618
JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,354,759...2,358,135
Ensembl chrNW_004624885:2,354,684...2,358,135
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 chrNW_004624885:1,399,235...1,403,669
Ensembl chrNW_004624885:1,398,505...1,403,789
JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:333,046...333,357 JBrowse link
G Lelp1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:626,779...629,690 JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,495,400...2,496,273
Ensembl chrNW_004624885:2,492,525...2,503,465
JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,470,853...19,474,959
Ensembl chrNW_004624772:19,472,576...19,476,708
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,423,563...1,466,657
Ensembl chrNW_004624885:1,447,395...1,467,554
JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:675,955...677,391 JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,684,380...18,714,120
Ensembl chrNW_004624772:18,684,359...18,695,035
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,287,587...18,292,384
Ensembl chrNW_004624772:18,289,509...18,319,033
JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,685,423...1,714,462
Ensembl chrNW_004624885:1,687,572...1,714,238
JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,885,437...1,893,406
Ensembl chrNW_004624885:1,885,144...1,894,464
JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,412,031...1,422,297
Ensembl chrNW_004624885:1,416,288...1,421,277
JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,815,570...18,826,501
Ensembl chrNW_004624772:18,817,564...18,826,501
JBrowse link
G Mir9-1hg MIR9-1 host gene ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,640,869...1,665,272 JBrowse link
G Mllt11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,762,099...18,768,629 JBrowse link
G Mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,893,771...1,899,244
Ensembl chrNW_004624885:1,893,771...1,899,617
JBrowse link
G Mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,435,032...19,438,802
Ensembl chrNW_004624772:19,434,901...19,438,757
JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,045,865...18,060,284
Ensembl chrNW_004624772:18,045,976...18,060,287
JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,175,433...1,179,526
Ensembl chrNW_004624885:1,175,492...1,179,456
JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:17,707,338...17,715,482
Ensembl chrNW_004624772:17,707,340...17,714,905
JBrowse link
G Mtx1 metaxin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,321,324...2,327,518 JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,339,281...2,343,351 JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,780,894...1,783,288
Ensembl chrNW_004624885:1,780,882...1,783,242
JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,837,614...1,845,029
Ensembl chrNW_004624885:1,837,926...1,844,895
JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,462,334...3,475,735
Ensembl chrNW_004624885:3,460,438...3,475,720
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577
JBrowse link
G Nup210l nucleoporin 210 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004624885:3,140,355...3,234,360 JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,438,742...19,445,293
Ensembl chrNW_004624772:19,442,015...19,445,182
JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:17,717,178...17,776,940
Ensembl chrNW_004624772:17,721,218...17,787,299
JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,528,549...1,532,010
Ensembl chrNW_004624885:1,528,655...1,532,000
JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,526,072...2,535,618
Ensembl chrNW_004624885:2,528,222...2,535,795
JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,533,603...18,564,160
Ensembl chrNW_004624772:18,532,986...18,564,492
JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,616,095...18,658,016
Ensembl chrNW_004624772:18,616,121...18,658,286
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,261,850...2,272,175
Ensembl chrNW_004624885:2,264,928...2,272,171
JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:17,889,528...17,898,739
Ensembl chrNW_004624772:17,889,560...17,901,213
JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,544,136...2,552,591
Ensembl chrNW_004624885:2,543,862...2,553,237
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,127,702...19,184,151
Ensembl chrNW_004624772:19,127,702...19,184,048
JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,925,712...1,948,275
Ensembl chrNW_004624885:1,925,029...1,949,099
JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,074,535...18,097,191
Ensembl chrNW_004624772:18,070,970...18,100,423
JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:626,780...641,008 JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,791,590...18,820,818
Ensembl chrNW_004624772:18,791,590...18,816,679
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,124,327...19,126,731
Ensembl chrNW_004624772:19,124,386...19,126,627
JBrowse link
G Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,600,021...18,609,887
Ensembl chrNW_004624772:18,600,021...18,610,014
JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,521,230...2,525,449
Ensembl chrNW_004624885:2,521,368...2,525,449
JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,239,581...3,243,539
Ensembl chrNW_004624885:3,239,595...3,243,539
JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,404,922...1,411,427
Ensembl chrNW_004624885:1,404,845...1,411,627
JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,517,829...18,523,220
Ensembl chrNW_004624772:18,517,305...18,523,220
JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,616,331...1,628,349
Ensembl chrNW_004624885:1,616,060...1,628,933
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 chrNW_004624772:19,407,336...19,416,320
Ensembl chrNW_004624772:19,406,992...19,411,621
JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,275,765...1,284,613 JBrowse link
G Rorc RAR related orphan receptor C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,478,403...19,501,184
Ensembl chrNW_004624772:19,477,093...19,501,169
JBrowse link
G Rprd2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,107,235...18,215,996
Ensembl chrNW_004624772:18,107,317...18,212,239
JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004624885:3,234,338...3,235,747
Ensembl chrNW_004624885:3,234,339...3,235,747
JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:949,542...957,142 JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,309,418...1,312,004 JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,512,288...3,516,845
Ensembl chrNW_004624885:3,512,288...3,516,850
JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,597,909...19,608,352
Ensembl chrNW_004624772:19,597,942...19,608,271
JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,563,871...19,568,413
Ensembl chrNW_004624772:19,563,889...19,568,766
JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,512,424...3,527,462
Ensembl chrNW_004624885:3,514,979...3,527,458
JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,529,813...3,531,314
Ensembl chrNW_004624885:3,529,026...3,532,182
JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,532,876...3,538,530
Ensembl chrNW_004624885:3,532,292...3,538,640
JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,572,419...3,588,121
Ensembl chrNW_004624885:3,585,111...3,589,138
JBrowse link
G S100a4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,589,323...3,591,463
Ensembl chrNW_004624885:3,586,909...3,592,914
JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,591,615...3,596,224
Ensembl chrNW_004624885:3,593,083...3,596,633
JBrowse link
G S100a7 S100 calcium binding protein A7 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:790,961...794,189 JBrowse link
G S100a8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:784,528...785,623 JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:767,455...770,023
Ensembl chrNW_004624885:762,934...770,129
JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,296,409...2,301,456
Ensembl chrNW_004624885:2,296,429...2,301,452
JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,496,479...18,505,706
Ensembl chrNW_004624772:18,496,495...18,505,706
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,470,666...1,493,634
Ensembl chrNW_004624885:1,470,525...1,495,369
JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,707,723...18,720,661
Ensembl chrNW_004624772:18,707,744...18,720,731
JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,855,405...18,894,285
Ensembl chrNW_004624772:18,855,332...18,894,226
JBrowse link
G Sf3b4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:17,701,930...17,706,613
Ensembl chrNW_004624772:17,701,341...17,706,550
JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,951,442...1,960,292
Ensembl chrNW_004624885:1,952,387...1,960,424
JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,511,039...2,520,883
Ensembl chrNW_004624885:2,511,240...2,521,155
JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004624885:2,886,584...2,904,953 JBrowse link
G Slc25a44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,500,837...1,517,481
Ensembl chrNW_004624885:1,500,255...1,517,481
JBrowse link
G Slc27a3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,398,652...3,403,376
Ensembl chrNW_004624885:3,395,839...3,402,542
JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,260,673...3,264,636
Ensembl chrNW_004624885:3,260,681...3,264,959
JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,379,489...2,381,921
Ensembl chrNW_004624885:2,379,489...2,381,918
JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,532,101...1,565,811
Ensembl chrNW_004624885:1,532,101...1,560,307
JBrowse link
G Snapin SNAP associated protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,490,321...3,491,963
Ensembl chrNW_004624885:3,490,321...3,491,946
JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,305,355...19,385,298
Ensembl chrNW_004624772:19,305,359...19,385,292
JBrowse link
G Sprr1b small proline rich protein 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:523,256...525,503 JBrowse link
G Sprr3 small proline rich protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:495,035...510,429 JBrowse link
G Sprr4 small proline rich protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:455,934...469,835 JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,365,651...1,372,778
Ensembl chrNW_004624885:1,364,563...1,372,466
JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,246,768...1,266,418
Ensembl chrNW_004624885:1,246,719...1,266,420
JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,221,704...18,234,080
Ensembl chrNW_004624772:18,221,459...18,240,601
JBrowse link
G Tchhl1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,718,920...19,725,594 JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,447,092...19,463,796
Ensembl chrNW_004624772:19,444,049...19,463,788
JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,327,427...2,337,460
Ensembl chrNW_004624885:2,327,459...2,340,338
JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,673,079...19,704,635
Ensembl chrNW_004624772:19,673,066...19,698,710
JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,523,721...19,530,019
Ensembl chrNW_004624772:19,523,526...19,530,041
JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,562,031...1,567,882
Ensembl chrNW_004624885:1,562,092...1,567,303
JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,674,638...18,680,319
Ensembl chrNW_004624772:18,674,861...18,680,317
JBrowse link
G Tnfaip8l2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,695,670...18,698,304
Ensembl chrNW_004624772:18,695,083...18,697,688
JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004624885:3,109,360...3,139,664
Ensembl chrNW_004624885:3,109,436...3,139,789
JBrowse link
G Trim46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,344,250...2,354,390
Ensembl chrNW_004624885:2,343,991...2,354,288
JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,768,702...1,777,349 JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,250,576...19,287,540
Ensembl chrNW_004624772:19,250,491...19,287,145
JBrowse link
G Ubap2l ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004624885:3,043,328...3,089,657
Ensembl chrNW_004624885:3,043,328...3,089,664
JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004624885:2,857,819...2,865,891
Ensembl chrNW_004624885:2,857,442...2,867,056
JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,382,302...1,398,474
Ensembl chrNW_004624885:1,383,897...1,398,484
JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:17,817,958...17,885,107
Ensembl chrNW_004624772:17,818,039...17,889,228
JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,662,515...18,674,214
Ensembl chrNW_004624772:18,662,110...18,674,193
JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,474,427...2,489,024
Ensembl chrNW_004624885:2,475,727...2,489,030
JBrowse link
G Znf687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,564,311...18,589,584
Ensembl chrNW_004624772:18,564,311...18,572,479
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 chrNW_004624795:838,786...843,465
Ensembl chrNW_004624795:838,681...842,883
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 chrNW_004624885:2,441,298...2,451,061
Ensembl chrNW_004624885:2,441,217...2,451,057
JBrowse link
G Adamtsl4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,264,521...18,275,497
Ensembl chrNW_004624772:18,267,719...18,275,597
JBrowse link
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693
JBrowse link
G Anp32e acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:17,965,947...17,981,870 JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,827,061...18,848,683
Ensembl chrNW_004624772:18,827,061...18,842,457
JBrowse link
G Aph1a aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,018,852...18,022,431
Ensembl chrNW_004624772:18,018,896...18,022,508
JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,014,853...3,032,920
Ensembl chrNW_004624885:3,014,351...3,022,248
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 chrNW_004624885:1,314,885...1,362,730
Ensembl chrNW_004624885:1,311,512...1,362,730
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,949,221...19,016,672
Ensembl chrNW_004624772:18,949,108...19,015,504
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:961,880...1,136,990
Ensembl chrNW_004624885:961,880...1,136,731
JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,995,379...3,014,207
Ensembl chrNW_004624885:2,994,020...3,012,995
JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,816,591...1,829,971
Ensembl chrNW_004624885:1,820,105...1,832,510
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109
JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,780,646...18,790,781
Ensembl chrNW_004624772:18,780,652...18,790,128
JBrowse link
G C2cd4d C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,506,927...19,508,062
Ensembl chrNW_004624772:19,507,028...19,508,062
JBrowse link
G Ca14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,011,094...18,018,585
Ensembl chrNW_004624772:18,012,280...18,022,508
JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,575,560...1,592,540
Ensembl chrNW_004624885:1,575,562...1,592,594
JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,768,765...18,774,859
Ensembl chrNW_004624772:18,768,827...18,774,859
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 chrNW_004624772:19,389,147...19,403,100
Ensembl chrNW_004624772:19,387,827...19,403,094
JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,851,681...18,855,267
Ensembl chrNW_004624772:18,851,612...18,855,255
JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,222,475...19,249,418 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 chrNW_004624885:2,839,607...2,851,934
Ensembl chrNW_004624885:2,843,899...2,848,522
JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,501,468...3,511,481
Ensembl chrNW_004624885:3,501,470...3,511,451
JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,036,407...18,040,571
Ensembl chrNW_004624772:18,037,066...18,040,692
JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,507,462...2,510,842
Ensembl chrNW_004624885:2,507,462...2,510,818
JBrowse link
G Clk2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,285,116...2,295,959
Ensembl chrNW_004624885:2,284,953...2,296,735
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 chrNW_004624885:1,862,911...1,867,656
Ensembl chrNW_004624885:1,862,822...1,867,726
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 chrNW_004624885:3,249,747...3,255,210
Ensembl chrNW_004624885:3,250,116...3,254,634
JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,265,079...3,276,594
Ensembl chrNW_004624885:3,264,983...3,277,459
JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,013,189...19,026,756
Ensembl chrNW_004624772:19,015,835...19,025,588
JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,421,905...18,446,857
Ensembl chrNW_004624772:18,419,736...18,438,786
JBrowse link
G CUNH1orf54 chromosome unknown C1orf54 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,024,288...18,034,457
Ensembl chrNW_004624772:18,024,149...18,034,506
JBrowse link
G CUNH1orf56 chromosome unknown C1orf56 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:166,801...169,260 JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,135,770...1,170,447
Ensembl chrNW_004624885:1,137,191...1,170,139
JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,451,247...2,465,459
Ensembl chrNW_004624885:2,451,404...2,465,397
JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,465,530...2,474,418
Ensembl chrNW_004624885:2,465,636...2,471,722
JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,277,793...3,291,701
Ensembl chrNW_004624885:3,278,578...3,290,980
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 chrNW_004624885:2,377,850...2,378,390
Ensembl chrNW_004624885:2,377,880...2,378,390
JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,234,537...18,239,896
Ensembl chrNW_004624772:18,233,727...18,240,601
JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,382,712...2,388,805
Ensembl chrNW_004624885:2,383,045...2,389,107
JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,420,610...2,428,048
Ensembl chrNW_004624885:2,421,467...2,428,011
JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,436,629...2,440,196
Ensembl chrNW_004624885:2,436,535...2,440,200
JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,327,206...18,335,422
Ensembl chrNW_004624772:18,327,865...18,335,870
JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,301,637...2,307,839
Ensembl chrNW_004624885:2,302,530...2,307,299
JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:942,998...949,529
Ensembl chrNW_004624885:943,571...949,528
JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,496,448...2,503,277
Ensembl chrNW_004624885:2,496,448...2,503,180
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 chrNW_004624772:18,726,903...18,760,307 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 chrNW_004624885:3,297,191...3,375,908
Ensembl chrNW_004624885:3,362,823...3,375,179
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,315,371...2,321,327
Ensembl chrNW_004624885:2,315,142...2,321,327
JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,568,096...1,571,001
Ensembl chrNW_004624885:1,568,551...1,570,924
JBrowse link
G Golph3l golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,342,613...18,378,037
Ensembl chrNW_004624772:18,342,520...18,377,653
JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,179,033...1,246,592 JBrowse link
G Gpatch4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,783,892...1,793,074 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 chrNW_004624885:1,799,303...1,805,977
Ensembl chrNW_004624885:1,798,904...1,805,318
JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,039,711...3,042,702
Ensembl chrNW_004624885:3,039,256...3,042,362
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 chrNW_004624885:2,271,991...2,281,575
Ensembl chrNW_004624885:2,272,935...2,281,588
JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,900,835...1,910,886 JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,379,154...18,403,456
Ensembl chrNW_004624772:18,379,745...18,403,745
JBrowse link
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,910,367...2,946,916
Ensembl chrNW_004624885:2,910,112...2,946,886
JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,483,385...3,490,157
Ensembl chrNW_004624885:3,483,462...3,493,805
JBrowse link
G Insrr insulin receptor related receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,971,442...1,987,595
Ensembl chrNW_004624885:1,971,345...1,987,231
JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,403,614...3,442,170
Ensembl chrNW_004624885:3,401,899...3,442,227
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 chrNW_004624885:1,730,079...1,765,250
Ensembl chrNW_004624885:1,730,771...1,765,180
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 chrNW_004624885:1,878,939...1,885,743
Ensembl chrNW_004624885:1,874,331...1,885,001
JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:375,035...375,967 JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,247,502...3,249,658
Ensembl chrNW_004624885:3,247,516...3,249,840
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 chrNW_004624885:2,597,605...2,731,598
Ensembl chrNW_004624885:2,597,466...2,726,363
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 chrNW_004624885:1,285,461...1,306,207
Ensembl chrNW_004624885:1,285,465...1,306,193
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 chrNW_004624885:210,725...211,797
Ensembl chrNW_004624885:210,725...211,618
JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,354,759...2,358,135
Ensembl chrNW_004624885:2,354,684...2,358,135
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 chrNW_004624885:1,399,235...1,403,669
Ensembl chrNW_004624885:1,398,505...1,403,789
JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:333,046...333,357 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 chrNW_004624885:626,779...629,690 JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,495,400...2,496,273
Ensembl chrNW_004624885:2,492,525...2,503,465
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 chrNW_004624772:19,470,853...19,474,959
Ensembl chrNW_004624772:19,472,576...19,476,708
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,423,563...1,466,657
Ensembl chrNW_004624885:1,447,395...1,467,554
JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:675,955...677,391 JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,684,380...18,714,120
Ensembl chrNW_004624772:18,684,359...18,695,035
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,287,587...18,292,384
Ensembl chrNW_004624772:18,289,509...18,319,033
JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,685,423...1,714,462
Ensembl chrNW_004624885:1,687,572...1,714,238
JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,885,437...1,893,406
Ensembl chrNW_004624885:1,885,144...1,894,464
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 chrNW_004624885:1,412,031...1,422,297
Ensembl chrNW_004624885:1,416,288...1,421,277
JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,815,570...18,826,501
Ensembl chrNW_004624772:18,817,564...18,826,501
JBrowse link
G Mir9-1hg MIR9-1 host gene ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,640,869...1,665,272 JBrowse link
G Mllt11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,762,099...18,768,629 JBrowse link
G Mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,893,771...1,899,244
Ensembl chrNW_004624885:1,893,771...1,899,617
JBrowse link
G Mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,435,032...19,438,802
Ensembl chrNW_004624772:19,434,901...19,438,757
JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,045,865...18,060,284
Ensembl chrNW_004624772:18,045,976...18,060,287
JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,175,433...1,179,526
Ensembl chrNW_004624885:1,175,492...1,179,456
JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:17,707,338...17,715,482
Ensembl chrNW_004624772:17,707,340...17,714,905
JBrowse link
G Mtx1 metaxin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,321,324...2,327,518 JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,339,281...2,343,351 JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,780,894...1,783,288
Ensembl chrNW_004624885:1,780,882...1,783,242
JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,837,614...1,845,029
Ensembl chrNW_004624885:1,837,926...1,844,895
JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,462,334...3,475,735
Ensembl chrNW_004624885:3,460,438...3,475,720
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577
JBrowse link
G Nup210l nucleoporin 210 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,140,355...3,234,360 JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,438,742...19,445,293
Ensembl chrNW_004624772:19,442,015...19,445,182
JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:17,717,178...17,776,940
Ensembl chrNW_004624772:17,721,218...17,787,299
JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,528,549...1,532,010
Ensembl chrNW_004624885:1,528,655...1,532,000
JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,526,072...2,535,618
Ensembl chrNW_004624885:2,528,222...2,535,795
JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,533,603...18,564,160
Ensembl chrNW_004624772:18,532,986...18,564,492
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 chrNW_004624772:18,616,095...18,658,016
Ensembl chrNW_004624772:18,616,121...18,658,286
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,261,850...2,272,175
Ensembl chrNW_004624885:2,264,928...2,272,171
JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:17,889,528...17,898,739
Ensembl chrNW_004624772:17,889,560...17,901,213
JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,544,136...2,552,591
Ensembl chrNW_004624885:2,543,862...2,553,237
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 chrNW_004624772:19,127,702...19,184,151
Ensembl chrNW_004624772:19,127,702...19,184,048
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 chrNW_004624885:1,925,712...1,948,275
Ensembl chrNW_004624885:1,925,029...1,949,099
JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,074,535...18,097,191
Ensembl chrNW_004624772:18,070,970...18,100,423
JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:626,780...641,008 JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,791,590...18,820,818
Ensembl chrNW_004624772:18,791,590...18,816,679
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,124,327...19,126,731
Ensembl chrNW_004624772:19,124,386...19,126,627
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 chrNW_004624772:18,600,021...18,609,887
Ensembl chrNW_004624772:18,600,021...18,610,014
JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,521,230...2,525,449
Ensembl chrNW_004624885:2,521,368...2,525,449
JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,239,581...3,243,539
Ensembl chrNW_004624885:3,239,595...3,243,539
JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,404,922...1,411,427
Ensembl chrNW_004624885:1,404,845...1,411,627
JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,517,829...18,523,220
Ensembl chrNW_004624772:18,517,305...18,523,220
JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,616,331...1,628,349
Ensembl chrNW_004624885:1,616,060...1,628,933
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 chrNW_004624772:19,407,336...19,416,320
Ensembl chrNW_004624772:19,406,992...19,411,621
JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,275,765...1,284,613 JBrowse link
G Rorc RAR related orphan receptor C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,478,403...19,501,184
Ensembl chrNW_004624772:19,477,093...19,501,169
JBrowse link
G Rprd2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,107,235...18,215,996
Ensembl chrNW_004624772:18,107,317...18,212,239
JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,234,338...3,235,747
Ensembl chrNW_004624885:3,234,339...3,235,747
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 chrNW_004624885:949,542...957,142 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 chrNW_004624885:1,309,418...1,312,004 JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,512,288...3,516,845
Ensembl chrNW_004624885:3,512,288...3,516,850
JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,597,909...19,608,352
Ensembl chrNW_004624772:19,597,942...19,608,271
JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,563,871...19,568,413
Ensembl chrNW_004624772:19,563,889...19,568,766
JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,512,424...3,527,462
Ensembl chrNW_004624885:3,514,979...3,527,458
JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,529,813...3,531,314
Ensembl chrNW_004624885:3,529,026...3,532,182
JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,532,876...3,538,530
Ensembl chrNW_004624885:3,532,292...3,538,640
JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,572,419...3,588,121
Ensembl chrNW_004624885:3,585,111...3,589,138
JBrowse link
G S100a4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,589,323...3,591,463
Ensembl chrNW_004624885:3,586,909...3,592,914
JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,591,615...3,596,224
Ensembl chrNW_004624885:3,593,083...3,596,633
JBrowse link
G S100a7 S100 calcium binding protein A7 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:790,961...794,189 JBrowse link
G S100a8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:784,528...785,623 JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:767,455...770,023
Ensembl chrNW_004624885:762,934...770,129
JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,296,409...2,301,456
Ensembl chrNW_004624885:2,296,429...2,301,452
JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,496,479...18,505,706
Ensembl chrNW_004624772:18,496,495...18,505,706
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,470,666...1,493,634
Ensembl chrNW_004624885:1,470,525...1,495,369
JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,707,723...18,720,661
Ensembl chrNW_004624772:18,707,744...18,720,731
JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,855,405...18,894,285
Ensembl chrNW_004624772:18,855,332...18,894,226
JBrowse link
G Sf3b4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:17,701,930...17,706,613
Ensembl chrNW_004624772:17,701,341...17,706,550
JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,951,442...1,960,292
Ensembl chrNW_004624885:1,952,387...1,960,424
JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,511,039...2,520,883
Ensembl chrNW_004624885:2,511,240...2,521,155
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 chrNW_004624885:2,886,584...2,904,953 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 chrNW_004624885:1,500,837...1,517,481
Ensembl chrNW_004624885:1,500,255...1,517,481
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 chrNW_004624885:3,398,652...3,403,376
Ensembl chrNW_004624885:3,395,839...3,402,542
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 chrNW_004624885:3,260,673...3,264,636
Ensembl chrNW_004624885:3,260,681...3,264,959
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 chrNW_004624885:2,379,489...2,381,921
Ensembl chrNW_004624885:2,379,489...2,381,918
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 chrNW_004624885:1,532,101...1,565,811
Ensembl chrNW_004624885:1,532,101...1,560,307
JBrowse link
G Snapin SNAP associated protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,490,321...3,491,963
Ensembl chrNW_004624885:3,490,321...3,491,946
JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,305,355...19,385,298
Ensembl chrNW_004624772:19,305,359...19,385,292
JBrowse link
G Sprr1b small proline rich protein 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:523,256...525,503 JBrowse link
G Sprr3 small proline rich protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:495,035...510,429 JBrowse link
G Sprr4 small proline rich protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:455,934...469,835 JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,365,651...1,372,778
Ensembl chrNW_004624885:1,364,563...1,372,466
JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,246,768...1,266,418
Ensembl chrNW_004624885:1,246,719...1,266,420
JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,221,704...18,234,080
Ensembl chrNW_004624772:18,221,459...18,240,601
JBrowse link
G Tchhl1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,718,920...19,725,594 JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,447,092...19,463,796
Ensembl chrNW_004624772:19,444,049...19,463,788
JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,327,427...2,337,460
Ensembl chrNW_004624885:2,327,459...2,340,338
JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,673,079...19,704,635
Ensembl chrNW_004624772:19,673,066...19,698,710
JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,523,721...19,530,019
Ensembl chrNW_004624772:19,523,526...19,530,041
JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,562,031...1,567,882
Ensembl chrNW_004624885:1,562,092...1,567,303
JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,674,638...18,680,319
Ensembl chrNW_004624772:18,674,861...18,680,317
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 chrNW_004624772:18,695,670...18,698,304
Ensembl chrNW_004624772:18,695,083...18,697,688
JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,109,360...3,139,664
Ensembl chrNW_004624885:3,109,436...3,139,789
JBrowse link
G Trim46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,344,250...2,354,390
Ensembl chrNW_004624885:2,343,991...2,354,288
JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,768,702...1,777,349 JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:19,250,576...19,287,540
Ensembl chrNW_004624772:19,250,491...19,287,145
JBrowse link
G Ubap2l ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:3,043,328...3,089,657
Ensembl chrNW_004624885:3,043,328...3,089,664
JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,857,819...2,865,891
Ensembl chrNW_004624885:2,857,442...2,867,056
JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:1,382,302...1,398,474
Ensembl chrNW_004624885:1,383,897...1,398,484
JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23599270 PMID:23738510 PMID:25640679 More... NCBI chrNW_004624772:17,817,958...17,885,107
Ensembl chrNW_004624772:17,818,039...17,889,228
JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,662,515...18,674,214
Ensembl chrNW_004624772:18,662,110...18,674,193
JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624885:2,474,427...2,489,024
Ensembl chrNW_004624885:2,475,727...2,489,030
JBrowse link
G Znf687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004624772:18,564,311...18,589,584
Ensembl chrNW_004624772:18,564,311...18,572,479
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 chrNW_004624731:4,679,060...4,685,892
Ensembl chrNW_004624731:4,678,731...4,687,617
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 chrNW_004624731:4,474,912...4,484,866
Ensembl chrNW_004624731:4,474,689...4,484,894
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 chrNW_004624731:4,537,073...4,544,256
Ensembl chrNW_004624731:4,537,089...4,544,256
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 chrNW_004624731:4,556,481...4,577,612
Ensembl chrNW_004624731:4,557,842...4,577,602
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 chrNW_004624731:4,577,663...4,671,086
Ensembl chrNW_004624731:4,611,963...4,671,765
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 chrNW_004624731:4,672,192...4,675,326
Ensembl chrNW_004624731:4,672,535...4,673,071
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 chrNW_004624731:4,524,090...4,536,879
Ensembl chrNW_004624731:4,525,556...4,536,858
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 chrNW_004624731:4,544,664...4,552,890
Ensembl chrNW_004624731:4,544,936...4,548,677
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 chrNW_004624731:5,350,912...5,359,286 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 chrNW_004624764:19,356,848...19,396,209
Ensembl chrNW_004624764:19,356,361...19,367,860
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 chrNW_004624838:1,697,863...1,747,115
Ensembl chrNW_004624838:1,697,863...1,747,136
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 chrNW_004624817:4,593,823...4,735,573
Ensembl chrNW_004624817:4,593,639...4,735,091
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 chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528
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 chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chrNW_004624732:35,266,830...35,337,610
Ensembl chrNW_004624732:35,266,830...35,337,645
JBrowse link
G Lct lactase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chrNW_004624732:35,125,995...35,177,055
Ensembl chrNW_004624732:35,125,287...35,175,062
JBrowse link
G Mcm6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chrNW_004624732:35,179,488...35,217,437
Ensembl chrNW_004624732:35,179,488...35,217,391
JBrowse link
G R3hdm1 R3H domain containing 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chrNW_004624732:34,920,435...35,032,733
Ensembl chrNW_004624732:34,904,358...35,031,758
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 chrNW_004624732:34,450,616...34,593,675
Ensembl chrNW_004624732:34,450,630...34,593,675
JBrowse link
G Ubxn4 UBX domain protein 4 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chrNW_004624732:35,055,726...35,113,016
Ensembl chrNW_004624732:35,056,022...35,110,987
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 chrNW_004624732:34,561,249...34,848,093
Ensembl chrNW_004624732:34,556,784...34,848,965
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 chrNW_004624893:595,948...602,980
Ensembl chrNW_004624893:595,967...602,979
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 chrNW_004624893:1,759,148...1,767,831
Ensembl chrNW_004624893:1,759,045...1,767,918
JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624978:99,605...110,645
Ensembl chrNW_004624978:100,505...110,646
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:3,014,535...3,020,862
Ensembl chrNW_004624893:3,014,989...3,021,746
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 chrNW_004624893:945,378...968,041
Ensembl chrNW_004624893:945,436...970,431
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:824,834...841,786
Ensembl chrNW_004624893:831,833...841,884
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:971,688...1,008,460
Ensembl chrNW_004624893:971,645...998,886
JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:1,775,726...1,861,925
Ensembl chrNW_004624893:1,788,915...1,862,015
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 chrNW_004624887:3,986,218...3,998,379
Ensembl chrNW_004624887:3,986,217...3,999,000
JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624978:180,352...194,467
Ensembl chrNW_004624978:184,286...190,970
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:1,892,511...2,081,634
Ensembl chrNW_004624893:1,896,083...2,081,503
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 chrNW_004624893:340,843...346,560
Ensembl chrNW_004624893:341,129...347,717
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624978:194,985...208,105
Ensembl chrNW_004624978:194,992...208,103
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:631,033...632,244 JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
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 chrNW_004624893:297,312...308,772
Ensembl chrNW_004624893:299,020...303,773
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:595,948...602,980
Ensembl chrNW_004624893:595,967...602,979
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:562,815...570,099
Ensembl chrNW_004624893:562,330...574,594
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 chrNW_004624893:871,163...879,709
Ensembl chrNW_004624893:871,355...879,674
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:753,111...778,563
Ensembl chrNW_004624893:753,111...778,539
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:608,744...627,600
Ensembl chrNW_004624893:608,540...628,580
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 chrNW_004624887:3,712,530...3,872,416
Ensembl chrNW_004624887:3,808,785...3,872,416
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 chrNW_004624893:739,980...752,924
Ensembl chrNW_004624893:739,977...751,415
JBrowse link
G LOC101715199 neutrophil elastase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chrNW_004624828:7,720,020...7,722,842 JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:906,203...909,555
Ensembl chrNW_004624893:906,015...909,610
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 chrNW_004624887:3,919,109...3,921,643
Ensembl chrNW_004624887:3,918,432...3,921,348
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:702,895...736,623 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 chrNW_004624893:632,514...636,656
Ensembl chrNW_004624893:632,930...636,664
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 chrNW_004624893:694,944...700,068
Ensembl chrNW_004624893:694,928...700,062
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:913,106...916,263
Ensembl chrNW_004624893:913,105...916,282
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 chrNW_004624893:327,801...339,879
Ensembl chrNW_004624893:327,587...339,877
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 chrNW_004624893:1,012,976...1,030,380
Ensembl chrNW_004624893:1,013,509...1,030,441
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:680,929...684,251
Ensembl chrNW_004624893:681,167...684,251
JBrowse link
G Praf2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:842,293...845,494
Ensembl chrNW_004624893:842,071...846,170
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 chrNW_004624893:916,340...927,128
Ensembl chrNW_004624893:913,755...927,122
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 chrNW_004624887:3,921,934...3,953,739
Ensembl chrNW_004624887:3,923,986...3,957,133
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 chrNW_004624893:403,831...407,772
Ensembl chrNW_004624893:403,916...411,708
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 chrNW_004624887:3,881,624...3,900,144
Ensembl chrNW_004624887:3,883,213...3,899,277
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 chrNW_004624887:3,647,607...3,684,383
Ensembl chrNW_004624887:3,647,524...3,684,618
JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:2,373,847...2,660,122
Ensembl chrNW_004624893:2,373,815...2,660,199
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 chrNW_004624893:684,307...694,113
Ensembl chrNW_004624893:684,481...694,130
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 chrNW_004624893:275,906...284,883
Ensembl chrNW_004624893:275,820...284,696
JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624887:3,403,764...3,563,699
Ensembl chrNW_004624887:3,408,109...3,563,639
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:499,222...512,341
Ensembl chrNW_004624893:498,973...512,443
JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624978:110,640...179,910
Ensembl chrNW_004624978:110,506...180,568
JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:929,460...942,806
Ensembl chrNW_004624893:928,099...942,903
JBrowse link
G Tbc1d25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624893:364,004...390,517
Ensembl chrNW_004624893:363,688...393,301
JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:803,717...817,700
Ensembl chrNW_004624893:803,717...817,705
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:675,859...680,974
Ensembl chrNW_004624893:675,859...680,889
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912
JBrowse link
G Uba1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624887:3,961,699...3,983,772
Ensembl chrNW_004624887:3,963,871...3,984,243
JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624887:4,001,444...4,018,175
Ensembl chrNW_004624887:4,000,739...4,018,301
JBrowse link
G Usp27x ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:1,314,670...1,329,823
Ensembl chrNW_004624893:1,314,670...1,329,853
JBrowse link
G Uxt ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624978:209,222...216,909
Ensembl chrNW_004624978:208,432...217,497
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia OMIM
ClinVar
PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:8069912 More... NCBI chrNW_004624893:453,793...493,696
Ensembl chrNW_004624893:487,396...493,482
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624893:422,964...434,475
Ensembl chrNW_004624893:422,872...431,515
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004624893:845,689...852,221
Ensembl chrNW_004624893:845,701...852,244
JBrowse link
G Znf157 zinc finger protein 157 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624887:4,117,433...4,149,442
Ensembl chrNW_004624887:4,117,635...4,149,416
JBrowse link
G Znf41 zinc finger protein 41 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624887:4,276,293...4,292,722 JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004624978:291,506...393,153
Ensembl chrNW_004624978:291,491...383,802
JBrowse link
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbr1 debranching RNA lariats 1 ISO ClinVar Annotator: match by term: Xerosis and growth failure with immune and pulmonary dysfunction syndrome ClinVar
OMIM
PMID:37656279 NCBI chrNW_004624730:14,682,951...14,693,450
Ensembl chrNW_004624730:14,681,730...14,711,368
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15960
    disease of anatomical entity 13689
      hematopoietic system disease 2899
        leukocyte disease 1120
          leukopenia 463
            agranulocytosis 430
              Acquired Agranulocytosis + 16
              immunodeficiency 59 1
              neutropenia + 427
Path 2
Term Annotations click to browse term
  disease 15960
    disease of anatomical entity 13689
      Hemic and Lymphatic Diseases 3350
        hematopoietic system disease 2899
          leukocyte disease 1120
            leukopenia 463
              agranulocytosis 430
                Acquired Agranulocytosis + 16
                immunodeficiency 59 1
                neutropenia + 427
paths to the root