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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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



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agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 PMID:11732872 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15999287 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 ISO associated with schizophrenia;DNA:SNPs:exons, intron:multiple
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:14617031 PMID:14617031 RGD:11073696 NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:SNP: :6672G>C (human) RGD PMID:20868635 RGD:11041752 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
3-methylglutaconic aciduria type 7a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
JBrowse link
3-methylglutaconic aciduria type 7b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145
JBrowse link
G Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,748,622...155,814,186
Ensembl chr 1:155,748,652...155,814,184
JBrowse link
G Arhgef17 Rho guanine nucleotide exchange factor 17 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,230,607...155,290,163
Ensembl chr 1:155,233,168...155,290,498
JBrowse link
G Arrb1 arrestin, beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
JBrowse link
G Atg16l2 autophagy related 16-like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,687,386...155,703,419
Ensembl chr 1:155,684,564...155,703,420
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
JBrowse link
G Chrdl2 chordin-like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,343,201...154,370,651
Ensembl chr 1:154,343,201...154,370,640
JBrowse link
G Clpb ClpB family mitochondrial disaggregase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
JBrowse link
G Coa4 cytochrome c oxidase assembly factor 4 homolog ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,882,199...154,885,445
Ensembl chr 1:154,882,155...154,888,174
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
JBrowse link
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963
JBrowse link
G Fam168a family with sequence similarity 168, member A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,057,352...155,203,439
Ensembl chr 1:155,057,352...155,201,220
JBrowse link
G Fchsd2 FCH and double SH3 domains 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,444,471...155,685,350
Ensembl chr 1:155,444,460...155,685,539
JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667
JBrowse link
G Folr2 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724
JBrowse link
G Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,679,718...153,761,452
Ensembl chr 1:153,679,718...153,761,446
JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020
JBrowse link
G Klhl35 kelch-like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,767,138...153,773,550
Ensembl chr 1:153,767,970...153,773,557
JBrowse link
G Krtap5-8 keratin associated protein 5-8 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:197,446,125...197,446,817
Ensembl chr 1:197,446,125...197,446,817
JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179
JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890
JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704
JBrowse link
G Mir139 microRNA 139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
JBrowse link
G Mir326 microRNA 326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123
JBrowse link
G Mrpl48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,896,663...154,939,285
Ensembl chr 1:154,896,663...154,939,281
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869
JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
JBrowse link
G Olr35 olfactory receptor 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,994,678...154,043,281
Ensembl chr 1:154,041,306...154,043,257
JBrowse link
G P2ry2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632
JBrowse link
G P2ry6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,295,110...155,330,610
Ensembl chr 1:155,295,111...155,330,808
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775
JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434
JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902
JBrowse link
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
JBrowse link
G Plekhb1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,998,798...155,013,094
Ensembl chr 1:154,998,800...155,016,142
JBrowse link
G Pold3 DNA polymerase delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,417,893...154,456,687
Ensembl chr 1:154,418,084...154,456,665
JBrowse link
G Ppme1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,668,099...154,715,079
Ensembl chr 1:154,668,109...154,715,110
JBrowse link
G Rab6a RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,957,870...155,008,922
Ensembl chr 1:154,958,189...154,996,715
JBrowse link
G Relt RELT, TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,377,368...156,439,936
Ensembl chr 1:156,377,364...156,446,826
JBrowse link
G Rnf169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,250,462...154,311,867
Ensembl chr 1:154,254,473...154,311,653
JBrowse link
G Rps3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,778,363...153,783,663
Ensembl chr 1:153,777,472...153,783,680
JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
JBrowse link
G Slco2b1 solute carrier organic anion transporter family, member 2b1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,959,288...154,007,294
Ensembl chr 1:153,959,293...154,007,353
JBrowse link
G Snord15a small nucleolar RNA, C/D box 15A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,782,788...153,782,935
Ensembl chr 1:153,782,788...153,782,935
JBrowse link
G Spcs2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,163,724...154,183,152
Ensembl chr 1:154,163,724...154,183,186
JBrowse link
G Stard10 StAR-related lipid transfer domain containing 10 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,722,637...155,748,007
Ensembl chr 1:155,718,389...155,747,094
JBrowse link
G Tpbgl trophoblast glycoprotein-like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,923,722...153,926,548
Ensembl chr 1:153,925,098...153,926,252
JBrowse link
G Ucp2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
JBrowse link
G Xrra1 X-ray radiation resistance associated 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,183,330...154,247,883
Ensembl chr 1:154,183,377...154,247,895
JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 susceptibility ISO associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) RGD PMID:19332043 RGD:11353804 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G Fcgr3a Fc gamma receptor 3A treatment ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Itpa inosine triphosphatase ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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:24819208 PMID:24453114 PMID:20930093 RGD:11530041, RGD:11530056, RGD:11530043 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mdm2 MDM2 proto-oncogene susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) RGD PMID:21706156 RGD:11073725 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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 chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
JBrowse link
G Abhd17a abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,124,332...9,132,762
Ensembl chr 7:9,124,332...9,130,762
JBrowse link
G Adamtsl5 ADAMTS-like 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,362,623...9,371,248
Ensembl chr 7:9,363,237...9,370,285
JBrowse link
G Adat3 adenosine deaminase, tRNA-specific 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,109,070...9,113,673
Ensembl chr 7:9,101,187...9,115,340
JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO Neutropenia, cyclic OMIA PMID:47249 PMID:127610 PMID:173440 PMID:336117 PMID:347941 More... NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310
JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268
JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
JBrowse link
G Atp8b3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,175,544...9,195,449
Ensembl chr 7:9,175,391...9,195,442
JBrowse link
G Btbd2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,058,609...9,075,341
Ensembl chr 7:9,060,788...9,075,344
JBrowse link
G C7h19orf25 similar to human chromosome 19 open reading frame 25 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,390,255...9,392,383 JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,566,637...9,575,204
Ensembl chr 7:9,566,364...9,575,204
JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
JBrowse link
G Cirbp cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,533,857...9,538,899
Ensembl chr 7:9,424,178...9,538,818
JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656
JBrowse link
G Csnk1g2 casein kinase 1, gamma 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,076,739...9,095,082
Ensembl chr 7:9,076,740...9,095,052
JBrowse link
G Dazap1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,423,673...9,448,116
Ensembl chr 7:9,424,178...9,538,818
JBrowse link
G Efna2 ephrin A2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,515,635...9,528,071
Ensembl chr 7:9,516,429...9,527,061
JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cyclic hematopoiesis | ClinVar Annotator: match by term: Cyclical neutropenia
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
OMIM
ClinVar
CTD
RGD
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 More... RGD:10450519 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Fam174c family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,531,995...9,533,705 JBrowse link
G Fgf22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,947,632...9,956,918
Ensembl chr 7:9,948,071...9,950,486
JBrowse link
G Fstl3 follistatin like 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,923,574...9,929,223
Ensembl chr 7:9,923,576...9,939,639
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183
JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,007,276...9,010,428
Ensembl chr 7:9,007,280...9,010,032
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
JBrowse link
G Klf16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,138,503...9,148,322
Ensembl chr 7:9,138,503...9,148,317
JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,312,961...9,320,166
Ensembl chr 7:9,313,098...9,320,165
JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172
JBrowse link
G Mex3d mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,325,575...9,332,705
Ensembl chr 7:9,325,488...9,332,096
JBrowse link
G Midn midnolin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,548,100...9,559,605
Ensembl chr 7:9,549,650...9,559,752
JBrowse link
G Misp mitotic spindle positioning ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,870,390...9,886,541
Ensembl chr 7:9,870,444...9,886,541
JBrowse link
G Mknk2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,039,771...9,050,832
Ensembl chr 7:9,039,728...9,050,827
JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,010,490...9,027,888
Ensembl chr 7:9,010,587...9,027,879
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
JBrowse link
G Onecut3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,199,997...9,219,303
Ensembl chr 7:9,200,035...9,219,158
Ensembl chr 7:9,200,035...9,219,158
JBrowse link
G Palm paralemmin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,886,634...9,912,389
Ensembl chr 7:9,886,643...9,912,555
JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,381,366...9,389,589
Ensembl chr 7:9,381,361...9,389,585
JBrowse link
G Plk5 polo-like kinase 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,346,777...9,367,923
Ensembl chr 7:9,346,777...9,355,196
JBrowse link
G Plppr3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,831,162...9,842,434
Ensembl chr 7:9,831,162...9,845,296
JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643
JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791
JBrowse link
G Prss57 serine protease 57 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,915,667...9,922,996
Ensembl chr 7:9,917,484...9,922,922
JBrowse link
G Prtn3 proteinase 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397
JBrowse link
G Pwwp3a PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,465,180...9,482,053
Ensembl chr 7:9,465,195...9,481,966
JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512
JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,373,927...9,380,845
Ensembl chr 7:9,373,927...9,380,597
JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,154,050...9,174,035
Ensembl chr 7:9,154,061...9,173,454
JBrowse link
G Rnf126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,939,359...9,946,963
Ensembl chr 7:9,938,229...9,946,738
JBrowse link
G Rps15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450
JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,605,572...9,649,529
Ensembl chr 7:9,605,627...9,649,527
JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,101,504...9,113,929
Ensembl chr 7:9,101,489...9,113,967
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932
JBrowse link
G Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,305,042...9,309,753
Ensembl chr 7:9,305,058...9,309,750
JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070
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:15785251 PMID:8935143 RGD:11039034, RGD:11039041 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Leukemia;protein:decreased expression:serum: RGD PMID:8698137 RGD:11528539 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Nat2 N-acetyltransferase 2 ISO associated with Inflammation; RGD PMID:10739170 RGD:11532771 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
Drug-induced Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
Breast Neoplasms;DNA:SNP: :3435 C>T(human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)
RGD PMID:17534875 PMID:22271208 PMID:25007187 RGD:11080964, RGD:11081001, RGD:11080979 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility
no_association
ISO associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295 PMID:23188068 RGD:11080980, RGD:11080999 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO associated with Leukemia, Hairy Cell;
associated with Hepatitis C, Chronic;
RGD PMID:2461131 PMID:17660602 RGD:11039035, RGD:11039036 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: : RGD PMID:21702053 RGD:11353800
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: :
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human)
RGD PMID:21702053 PMID:19332043 RGD:11353800, RGD:11353804 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment
no_association
ISO associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)
associated with Neoplasms;DNA:missense mutations: :multiple
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
DNA:splice-site mutation, missense mutations: :multiple
associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)
RGD PMID:12209976 PMID:19473056 PMID:19473056 PMID:11156223 PMID:23942539 RGD:11251736, RGD:11098817, RGD:11098817, RGD:11251738, RGD:11251737 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO associated with Colorectal Neoplasms;DNA:SNP RGD PMID:23543295 RGD:11340199 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment ISO associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:21047201 RGD:11098572 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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 chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)
associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)
RGD PMID:21883784 PMID:20730791 PMID:19933905 RGD:11344964, RGD:11352256, RGD:11344973 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with breast cancer RGD PMID:23812950 RGD:10755330 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Mdm2 MDM2 proto-oncogene susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) RGD PMID:24732641 RGD:11073715 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit treatment ISO associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) RGD PMID:28924235 RGD:153323316 NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:27400856 RGD:14928329 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Slco1b2 solute carrier organic anion transporter family member 1B2 susceptibility
no_association
ISO associated with neoplasm;DNA:SNP:rs11045585(human)
associated with neoplasm;DNA:SNP: rs11045585(human)
RGD PMID:18294295 PMID:23188068 RGD:11080980, RGD:11080999 NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) RGD PMID:20309628 RGD:11035278 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility
treatment
ISO associated with neoplasms;DNA:polymorphism, repeat:promoter:-3156G>A, TA (human)
associated with Carcinoma, Non-Small-Cell Lung; DNA:repeat:promoter:(TA)
associated with Esophageal Neoplasms,Stomach Neoplasm;DNA:repeat:promoter:(TA)
associated with Adenocarcinoma, Colorectal;DNA:repeat:promoter:(TA) (rs8175347)
associated with Genital Neoplasms, Female;DNA:polymorphisms: :
RGD PMID:15007088 PMID:16636344 PMID:23783485 PMID:20177420 PMID:24932285 RGD:10768826, RGD:10769339, RGD:10769336, RGD:10769334, RGD:10768867 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Hematologic Diseases;protein:increased expression:plasma (human) RGD PMID:23369970 RGD:11528559 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality OMIM
ClinVar
PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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 chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766
JBrowse link
neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16950614 PMID:25007187 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO RGD PMID:12125811 RGD:1578409 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:181,434,524...181,441,000 JBrowse link
G C5 complement C5 ISO
IDA
RGD PMID:10516626 PMID:10188960 RGD:5130180, RGD:1600665 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
JBrowse link
G C5ar1 complement C5a receptor 1 IDA RGD PMID:10516626 RGD:5130180 NCBI chr 1:76,948,622...76,959,826 JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
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 chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:7875148 PMID:11264156 PMID:10832225 RGD:10449510 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:7524159 PMID:7529132 PMID:7543699 PMID:7688884 PMID:9740541 More... RGD:11039039 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12562666 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Elane elastase, neutrophil expressed ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neutropenia
CTD
ClinVar
PMID:9536098 PMID:10581030 PMID:17436313 PMID:17576681 PMID:20049848 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Ephx1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO DNA:SNP:cds:p.R131H (human) RGD PMID:11295474 RGD:11040988 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr2b Fc gamma receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO DNA:mutation:exon: RGD PMID:11810106 PMID:22684987 RGD:11040449, RGD:11040456 NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:19555437 RGD:10450844 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 PMID:32581362 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Itgam integrin subunit alpha M IMP associated with Brain Contusion RGD PMID:8835801 RGD:329901911 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Jagn1 jagunal homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129144 PMID:25129145 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766
JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr18:23,553,937...23,592,137
Ensembl chr18:23,553,937...23,592,137
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO protein:increased expression:blood, T cell RGD PMID:22092365 RGD:6483522 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19391036 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Muc16 mucin 16, cell surface associated ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
JBrowse link
G Pkp3 plakophilin 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:196,187,914...196,198,843
Ensembl chr 1:196,187,835...196,198,844
JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 2:184,246,201...184,262,150
Ensembl chr 2:184,246,204...184,262,208
JBrowse link
G Ptafr platelet-activating factor receptor treatment IMP RGD PMID:3011900 RGD:10043179 NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
JBrowse link
G Rnf128 ring finger protein 128 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr  X:103,183,643...103,298,431
Ensembl chr  X:103,183,831...103,298,423
JBrowse link
G Rps14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr18:54,227,854...54,232,638
Ensembl chr18:54,227,854...54,233,166
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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 chr10:91,193,752...91,202,817
Ensembl chr10:91,193,752...91,204,341
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 chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
JBrowse link
G Stat3 signal transducer and activator of transcription 3 IAGP associated with T-cell large granular lymphocyte leukemia RGD PMID:22591296 RGD:6892936 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tle2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 7:8,119,049...8,135,385
Ensembl chr 7:8,119,053...8,134,306
JBrowse link
G Tmem63a transmembrane protein 63a ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr13:92,662,872...92,696,186
Ensembl chr13:92,663,968...92,696,183
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:15986200 RGD:1580321 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
JBrowse link
G Tpmt thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18662289 NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17549067 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111
JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
G Zc3h3 zinc finger CCCH type containing 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 7:107,440,694...107,525,451
Ensembl chr 7:107,440,694...107,525,451
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults
OMIM
CTD
ClinVar
PMID:11807637 PMID:12778173 PMID:25741868 PMID:28492532 NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:22133767 RGD:11038657 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Poikiloderma with neutropenia
OMIM
CTD
ClinVar
PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 More... NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302
JBrowse link
Severe Chronic Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor ISO RGD PMID:9639496 RGD:10450484 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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 ClinVar
RGD
PMID:24753537 PMID:26324699 PMID:28492532 PMID:32581362 PMID:16985178 More... RGD:10450485, RGD:10450533 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
JBrowse link
G Elane elastase, neutrophil expressed ISO mRNA:decreased expression:myeloid CD33+ cell:
DNA:mutations: :
DNA:mutation:intron:c.597+1G>A (human)
RGD PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599 RGD:1598891, RGD:10450525, RGD:10450519, RGD:10450514 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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 chr16:18,413,452...18,430,795
Ensembl chr16:18,413,363...18,435,104
JBrowse link
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISS OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022 MouseDO NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:16199547 PMID:17187068 PMID:19036076 PMID:19499579 PMID:22624626 More... NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:25129144 PMID:25741868 PMID:25851723 PMID:28492532 PMID:30044346 More... NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Congenital neutropenia ClinVar PMID:24753205 NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
JBrowse link
severe congenital neutropenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:24753205 NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:16648375 PMID:25741868 PMID:28492532 NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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 chr10:101,513,689...101,517,176
Ensembl chr10:101,514,471...101,517,176
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 chr10:101,481,213...101,508,035
Ensembl chr10:101,481,212...101,508,035
JBrowse link
Severe Congenital Neutropenia 11, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 11, autosomal dominant OMIM
ClinVar
PMID:32325141 NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
JBrowse link
severe congenital neutropenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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 chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
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 chr14:1,875,601...2,021,678
Ensembl chr14:1,875,647...2,021,678
JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
OMIM
CTD
ClinVar
PMID:9536098 PMID:11807637 PMID:12778173 PMID:17576681 PMID:20560965 More... NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
JBrowse link
G Snord21 small nucleolar RNA, C/D box 21 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr14:1,847,134...1,847,227
Ensembl chr14:1,847,134...1,847,227
JBrowse link
severe congenital neutropenia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113
JBrowse link
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
G Anp32e acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,472,600...183,489,057
Ensembl chr 2:183,472,609...183,489,054
JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,873,185...182,884,501
Ensembl chr 2:182,872,929...182,883,374
JBrowse link
G Aph1a aph-1 homolog A, gamma secretase subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955
JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815
JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883
JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,818,593...182,830,421
Ensembl chr 2:182,818,595...182,828,588
JBrowse link
G C2cd4d C2 calcium-dependent domain containing 4D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:181,999,778...182,001,941
Ensembl chr 2:181,997,078...182,002,087
JBrowse link
G C2h1orf54 similar to human chromosome 1 open reading frame 54 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,424,989...183,434,713
Ensembl chr 2:183,424,984...183,435,089
JBrowse link
G C2h1orf56 similar to human chromosome 1 open reading frame 56 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,814,794...182,818,387
Ensembl chr 2:182,814,793...182,818,512
JBrowse link
G Car14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,442,263...183,449,231
Ensembl chr 2:183,441,667...183,449,693
JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,765,701...173,790,353
Ensembl chr 2:173,765,698...173,790,757
JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,805,691...182,813,520
Ensembl chr 2:182,804,925...182,814,028
JBrowse link
G Celf3 CUGBP, Elav-like family member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,116,034...182,130,163
Ensembl chr 2:182,116,073...182,130,163
JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,890,527...182,898,805
Ensembl chr 2:182,890,493...182,933,314
JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662
JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,308,389...182,335,747
Ensembl chr 2:182,308,714...182,334,645
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,981,266...175,992,820
Ensembl chr 2:175,981,271...175,992,748
JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,419,819...183,424,845
Ensembl chr 2:183,419,819...183,423,313
JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,833,025...174,837,614
Ensembl chr 2:174,833,050...174,837,636
JBrowse link
G Clk2 CDC-like kinase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,570,614...174,582,645
Ensembl chr 2:174,570,653...174,588,985
JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379
JBrowse link
G Crct1 cysteine-rich C-terminal 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,633,789...178,635,274
Ensembl chr 2:178,634,092...178,634,394
JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932
JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,733,329...178,736,404
Ensembl chr 2:178,731,796...178,736,216
JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763
JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461
JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,765,203...174,784,023
Ensembl chr 2:174,765,350...174,781,806
JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,781,806...174,795,834
Ensembl chr 2:174,781,902...174,795,832
JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426
JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...174,677,668
JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671
JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,681,676...174,689,061
Ensembl chr 2:174,681,682...174,690,866
JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,729,192...174,738,111
Ensembl chr 2:174,729,764...174,738,736
JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,748,729...174,752,979
Ensembl chr 2:174,748,724...174,752,979
JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,185,552...183,192,888
Ensembl chr 2:183,185,552...183,194,847
JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,588,984...174,595,281
Ensembl chr 2:174,589,337...174,595,281
JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977
JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,884,793...178,912,986 JBrowse link
G Flg2 filaggrin 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,789,792...178,802,232 JBrowse link
G Gabpb2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,755,304...182,795,368
Ensembl chr 2:182,761,359...182,795,109
JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,794,273...173,797,863
Ensembl chr 2:173,794,255...173,799,960
JBrowse link
G Golph3l golgi phosphoprotein 3-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,151,941...183,183,094
Ensembl chr 2:183,153,301...183,183,083
JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634
JBrowse link
G Gpatch4 G patch domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,499,700...173,520,346
Ensembl chr 2:173,509,897...173,518,684
JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,488,909...173,496,824
Ensembl chr 2:173,491,160...173,496,588
JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kostmann syndrome
OMIM
CTD
ClinVar
PMID:9536098 PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 More... NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966
JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747
JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,115,815...183,152,383
Ensembl chr 2:183,116,716...183,152,383
JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,952,174...175,971,191
Ensembl chr 2:175,952,186...175,971,337
JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709
JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,542,151...173,583,956
Ensembl chr 2:173,542,110...173,583,956
JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20-like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,396,780...173,407,102
Ensembl chr 2:173,396,780...173,406,614
JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,146,694...178,160,807
Ensembl chr 2:178,147,061...178,149,100
JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108
JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145
JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504
JBrowse link
G Kplce KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,481,482...178,483,434
Ensembl chr 2:178,481,373...178,483,424
JBrowse link
G Kprp keratinocyte proline-rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,429,923...178,434,221
Ensembl chr 2:178,429,923...178,434,221
JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,654,409...174,658,405
Ensembl chr 2:174,654,219...174,658,405
JBrowse link
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013
JBrowse link
G Lce1b late cornified envelope 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,255,351...178,257,533
Ensembl chr 2:178,256,213...178,257,985
JBrowse link
G Lce1d late cornified envelope 1D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G Lce1e late cornified envelope 1E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,462,100...178,463,433
Ensembl chr 2:178,462,100...178,463,433
JBrowse link
G Lce1f late cornified envelope 1F ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,305,786...178,307,372
Ensembl chr 2:178,305,786...178,307,372
JBrowse link
G Lce3e late cornified envelope 3E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,578,488...178,579,661
Ensembl chr 2:178,579,162...178,579,458
JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,194,148...178,195,234
Ensembl chr 2:178,194,318...178,194,563
JBrowse link
G Lelp1 late cornified envelope-like proline-rich 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,819,439...174,820,127
Ensembl chr 2:174,819,459...174,820,127
JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,035,522...182,040,787
Ensembl chr 2:182,014,326...182,040,787
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G LOC120100584 small proline-rich protein 2I-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,815,964...177,816,236
Ensembl chr 2:177,815,964...177,816,236
JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,558,062...177,560,960
Ensembl chr 2:177,558,252...177,559,807
JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,704,921...182,714,466
Ensembl chr 2:182,704,916...182,710,412
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457
JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,388,625...173,397,279
Ensembl chr 2:173,388,625...173,397,279
JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377
JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,859,977...182,873,000
Ensembl chr 2:182,860,472...182,873,015
JBrowse link
G Mllt11 MLLT11, transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199
JBrowse link
G mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,383,062...173,389,249
Ensembl chr 2:173,383,224...173,389,248
JBrowse link
G mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,082,012...182,086,758
Ensembl chr 2:182,076,369...182,087,095
JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,406,791...183,414,413
Ensembl chr 2:183,406,792...183,414,372
JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216
JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,721,983...183,732,148
Ensembl chr 2:183,723,530...183,732,148
JBrowse link
G Mtx1 Metaxin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,615,460...174,621,383
Ensembl chr 2:174,615,461...174,620,982
JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:173,518,971...173,521,040
JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
JBrowse link
G Ns5atp4 NS5A transactivated protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,494,406...175,507,281
Ensembl chr 2:175,494,304...175,510,663
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332
JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,073,212...182,076,147
Ensembl chr 2:182,073,215...182,082,399
JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,661,955...183,722,584
Ensembl chr 2:183,662,163...183,718,674
JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,832,241...173,838,443
Ensembl chr 2:173,833,880...173,838,456
JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,856,339...174,868,922
Ensembl chr 2:174,856,397...174,868,919
JBrowse link
G Pglyrp3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,479,693...177,490,769
Ensembl chr 2:177,477,407...177,490,736
Ensembl chr 2:177,477,407...177,490,736
JBrowse link
G Pglyrp4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,202,654...176,322,859
Ensembl chr 2:176,218,519...176,242,251
JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488
JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,544,487...183,552,928
Ensembl chr 2:183,544,499...183,552,785
JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270
JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825
JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489
JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,599,483...177,600,849
Ensembl chr 2:177,599,483...177,600,849
JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
JBrowse link
G Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,598,934...182,608,250
Ensembl chr 2:182,598,934...182,608,194
JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,849,670...174,854,758
Ensembl chr 2:174,849,936...174,854,758
JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036
JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422
JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717
JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,704,852...173,717,380
Ensembl chr 2:173,704,562...173,717,321
JBrowse link
G Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,099,924...182,110,544
Ensembl chr 2:182,101,795...182,110,319
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
JBrowse link
G Rorc RAR-related orphan receptor C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
JBrowse link
G Rprd2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,311,132...183,367,959
Ensembl chr 2:183,293,114...183,367,407
JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964
JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:179,061,768...179,066,056
Ensembl chr 2:179,060,017...179,065,910
JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,487,921...174,497,266
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,123,510...174,124,664 JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,993,922...175,998,765
Ensembl chr 2:175,993,922...175,999,544
JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:179,191,688...179,197,098
Ensembl chr 2:179,191,715...179,197,044
JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,999,439...176,005,933 JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,008,395...176,010,423
Ensembl chr 2:176,008,395...176,010,423
JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,016,405...176,022,117
Ensembl chr 2:176,016,268...176,022,117
JBrowse link
G S100a2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,077,081...176,078,325 JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,034,283...176,089,702
Ensembl chr 2:176,049,520...176,089,702
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,095,332...176,099,546
Ensembl chr 2:176,097,539...176,099,546
JBrowse link
G S100a6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
JBrowse link
G S100a7a S100 calcium binding protein A7A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441
JBrowse link
G S100a8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,583,124...174,588,984
Ensembl chr 2:174,570,653...174,588,985
JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,494,004...182,504,594
Ensembl chr 2:182,493,978...182,504,594
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,733,635...182,750,066
Ensembl chr 2:182,737,474...182,746,856
JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
JBrowse link
G Sf3b4 splicing factor 3B subunit 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669
JBrowse link
G Slc25a44 solute carrier family 25, member 44 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,868,317...173,883,137
Ensembl chr 2:173,868,320...173,883,020
JBrowse link
G Slc27a3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,853,241...175,857,909
Ensembl chr 2:175,853,241...175,857,909
JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058
JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,677,985...174,680,366
Ensembl chr 2:174,677,708...174,680,366
JBrowse link
G Smcp sperm mitochondria-associated cysteine-rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,160,948...178,165,951
Ensembl chr 2:178,160,127...178,166,001
JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,804,987...173,832,102
Ensembl chr 2:173,805,019...173,832,102
JBrowse link
G Snapin SNAP-associated protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,971,575...175,974,164
Ensembl chr 2:175,971,257...175,974,231
JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906
JBrowse link
G Sprr1a small proline-rich protein 1A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,055,096...178,057,012
Ensembl chr 2:178,055,096...178,057,063
JBrowse link
G Sprr1b small proline-rich protein 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,008,844...178,010,742
Ensembl chr 2:178,009,130...178,009,567
JBrowse link
G Sprr2a2 small proline-rich protein 2A2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,719,576...177,719,845
Ensembl chr 2:177,719,576...177,719,845
JBrowse link
G Sprr2b small proline rich protein 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096
JBrowse link
G Sprr2d small proline-rich protein 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,870,082...177,870,679
Ensembl chr 2:177,870,434...177,870,679
JBrowse link
G Sprr2f small proline rich protein 2F ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,989,974...177,990,204
Ensembl chr 2:177,989,974...177,990,204
JBrowse link
G Sprr3 small proline-rich protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,027,743...178,028,501
Ensembl chr 2:178,027,425...178,029,891
JBrowse link
G Sprr4 small proline-rich protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,082,466...178,083,125
Ensembl chr 2:178,082,871...178,083,104
JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042
JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964
JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184
JBrowse link
G Tchh trichohyalin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:179,103,660...179,112,014
Ensembl chr 2:179,109,609...179,110,985
Ensembl chr 2:179,109,609...179,110,985
JBrowse link
G Tchhl1 trichohyalin-like 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:179,134,941...179,138,467
Ensembl chr 2:179,135,796...179,138,202
JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,049,175...182,071,516
Ensembl chr 2:182,049,215...182,070,755
JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594
JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:181,953,550...181,974,708
Ensembl chr 2:181,953,550...181,974,708
JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:181,980,783...181,986,002
Ensembl chr 2:181,980,783...181,986,002
JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,695,709...182,700,540
Ensembl chr 2:182,695,709...182,700,540
JBrowse link
G Tnfaip8l2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,710,433...182,726,724
Ensembl chr 2:182,709,378...182,726,760
JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013
JBrowse link
G Trim46 tripartite motif-containing 46 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,641,494...174,654,237
Ensembl chr 2:174,641,496...174,654,141
JBrowse link
G Tsacc TSSK6 activating co-chaperone ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,755,841...173,765,564
Ensembl chr 2:173,753,786...173,765,404
JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,525,204...173,533,182
Ensembl chr 2:173,524,600...173,533,107
JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192
JBrowse link
G Ubap2l ubiquitin associated protein 2-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998
JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,198,793...175,209,152
Ensembl chr 2:175,198,873...175,207,942
JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059
JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kostmann syndrome
CTD
ClinVar
PMID:23599270 PMID:28492532 NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,678,594...182,690,185
Ensembl chr 2:182,678,609...182,690,182
JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,795,831...174,811,980
Ensembl chr 2:174,797,453...174,814,236
JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19011569 PMID:19118303 More... NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
JBrowse link
severe congenital neutropenia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113
JBrowse link
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
G Anp32e acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,472,600...183,489,057
Ensembl chr 2:183,472,609...183,489,054
JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,873,185...182,884,501
Ensembl chr 2:182,872,929...182,883,374
JBrowse link
G Aph1a aph-1 homolog A, gamma secretase subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955
JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815
JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883
JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,818,593...182,830,421
Ensembl chr 2:182,818,595...182,828,588
JBrowse link
G C2cd4d C2 calcium-dependent domain containing 4D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:181,999,778...182,001,941
Ensembl chr 2:181,997,078...182,002,087
JBrowse link
G C2h1orf54 similar to human chromosome 1 open reading frame 54 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,424,989...183,434,713
Ensembl chr 2:183,424,984...183,435,089
JBrowse link
G C2h1orf56 similar to human chromosome 1 open reading frame 56 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,814,794...182,818,387
Ensembl chr 2:182,814,793...182,818,512
JBrowse link
G Car14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,442,263...183,449,231
Ensembl chr 2:183,441,667...183,449,693
JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,765,701...173,790,353
Ensembl chr 2:173,765,698...173,790,757
JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,805,691...182,813,520
Ensembl chr 2:182,804,925...182,814,028
JBrowse link
G Celf3 CUGBP, Elav-like family member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,116,034...182,130,163
Ensembl chr 2:182,116,073...182,130,163
JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,890,527...182,898,805
Ensembl chr 2:182,890,493...182,933,314
JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662
JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,308,389...182,335,747
Ensembl chr 2:182,308,714...182,334,645
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,981,266...175,992,820
Ensembl chr 2:175,981,271...175,992,748
JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,419,819...183,424,845
Ensembl chr 2:183,419,819...183,423,313
JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,833,025...174,837,614
Ensembl chr 2:174,833,050...174,837,636
JBrowse link
G Clk2 CDC-like kinase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,570,614...174,582,645
Ensembl chr 2:174,570,653...174,588,985
JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379
JBrowse link
G Crct1 cysteine-rich C-terminal 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,633,789...178,635,274
Ensembl chr 2:178,634,092...178,634,394
JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932
JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,733,329...178,736,404
Ensembl chr 2:178,731,796...178,736,216
JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763
JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461
JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,765,203...174,784,023
Ensembl chr 2:174,765,350...174,781,806
JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,781,806...174,795,834
Ensembl chr 2:174,781,902...174,795,832
JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426
JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...174,677,668
JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671
JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,681,676...174,689,061
Ensembl chr 2:174,681,682...174,690,866
JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,729,192...174,738,111
Ensembl chr 2:174,729,764...174,738,736
JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,748,729...174,752,979
Ensembl chr 2:174,748,724...174,752,979
JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,185,552...183,192,888
Ensembl chr 2:183,185,552...183,194,847
JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,588,984...174,595,281
Ensembl chr 2:174,589,337...174,595,281
JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977
JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,884,793...178,912,986 JBrowse link
G Flg2 filaggrin 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,789,792...178,802,232 JBrowse link
G Gabpb2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,755,304...182,795,368
Ensembl chr 2:182,761,359...182,795,109
JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,794,273...173,797,863
Ensembl chr 2:173,794,255...173,799,960
JBrowse link
G Golph3l golgi phosphoprotein 3-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,151,941...183,183,094
Ensembl chr 2:183,153,301...183,183,083
JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634
JBrowse link
G Gpatch4 G patch domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,499,700...173,520,346
Ensembl chr 2:173,509,897...173,518,684
JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,488,909...173,496,824
Ensembl chr 2:173,491,160...173,496,588
JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966
JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747
JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,115,815...183,152,383
Ensembl chr 2:183,116,716...183,152,383
JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,952,174...175,971,191
Ensembl chr 2:175,952,186...175,971,337
JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709
JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,542,151...173,583,956
Ensembl chr 2:173,542,110...173,583,956
JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20-like 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,396,780...173,407,102
Ensembl chr 2:173,396,780...173,406,614
JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,146,694...178,160,807
Ensembl chr 2:178,147,061...178,149,100
JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108
JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145
JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504
JBrowse link
G Kplce KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,481,482...178,483,434
Ensembl chr 2:178,481,373...178,483,424
JBrowse link
G Kprp keratinocyte proline-rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,429,923...178,434,221
Ensembl chr 2:178,429,923...178,434,221
JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,654,409...174,658,405
Ensembl chr 2:174,654,219...174,658,405
JBrowse link
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013
JBrowse link
G Lce1b late cornified envelope 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,255,351...178,257,533
Ensembl chr 2:178,256,213...178,257,985
JBrowse link
G Lce1d late cornified envelope 1D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G Lce1e late cornified envelope 1E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,462,100...178,463,433
Ensembl chr 2:178,462,100...178,463,433
JBrowse link
G Lce1f late cornified envelope 1F ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,305,786...178,307,372
Ensembl chr 2:178,305,786...178,307,372
JBrowse link
G Lce3e late cornified envelope 3E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,578,488...178,579,661
Ensembl chr 2:178,579,162...178,579,458
JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,194,148...178,195,234
Ensembl chr 2:178,194,318...178,194,563
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
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,819,439...174,820,127
Ensembl chr 2:174,819,459...174,820,127
JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,035,522...182,040,787
Ensembl chr 2:182,014,326...182,040,787
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G LOC120100584 small proline-rich protein 2I-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,815,964...177,816,236
Ensembl chr 2:177,815,964...177,816,236
JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,558,062...177,560,960
Ensembl chr 2:177,558,252...177,559,807
JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,704,921...182,714,466
Ensembl chr 2:182,704,916...182,710,412
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457
JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,388,625...173,397,279
Ensembl chr 2:173,388,625...173,397,279
JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377
JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,859,977...182,873,000
Ensembl chr 2:182,860,472...182,873,015
JBrowse link
G Mllt11 MLLT11, transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199
JBrowse link
G mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,383,062...173,389,249
Ensembl chr 2:173,383,224...173,389,248
JBrowse link
G mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,082,012...182,086,758
Ensembl chr 2:182,076,369...182,087,095
JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,406,791...183,414,413
Ensembl chr 2:183,406,792...183,414,372
JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216
JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,721,983...183,732,148
Ensembl chr 2:183,723,530...183,732,148
JBrowse link
G Mtx1 Metaxin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,615,460...174,621,383
Ensembl chr 2:174,615,461...174,620,982
JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:173,518,971...173,521,040
JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
JBrowse link
G Ns5atp4 NS5A transactivated protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,494,406...175,507,281
Ensembl chr 2:175,494,304...175,510,663
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332
JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,073,212...182,076,147
Ensembl chr 2:182,073,215...182,082,399
JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,661,955...183,722,584
Ensembl chr 2:183,662,163...183,718,674
JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,832,241...173,838,443
Ensembl chr 2:173,833,880...173,838,456
JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,856,339...174,868,922
Ensembl chr 2:174,856,397...174,868,919
JBrowse link
G Pglyrp3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,479,693...177,490,769
Ensembl chr 2:177,477,407...177,490,736
Ensembl chr 2:177,477,407...177,490,736
JBrowse link
G Pglyrp4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,202,654...176,322,859
Ensembl chr 2:176,218,519...176,242,251
JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488
JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,544,487...183,552,928
Ensembl chr 2:183,544,499...183,552,785
JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270
JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825
JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489
JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,599,483...177,600,849
Ensembl chr 2:177,599,483...177,600,849
JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
JBrowse link
G Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,598,934...182,608,250
Ensembl chr 2:182,598,934...182,608,194
JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,849,670...174,854,758
Ensembl chr 2:174,849,936...174,854,758
JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036
JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422
JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717
JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,704,852...173,717,380
Ensembl chr 2:173,704,562...173,717,321
JBrowse link
G Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,099,924...182,110,544
Ensembl chr 2:182,101,795...182,110,319
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
JBrowse link
G Rorc RAR-related orphan receptor C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
JBrowse link
G Rprd2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,311,132...183,367,959
Ensembl chr 2:183,293,114...183,367,407
JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964
JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:179,061,768...179,066,056
Ensembl chr 2:179,060,017...179,065,910
JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,487,921...174,497,266
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,123,510...174,124,664 JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,993,922...175,998,765
Ensembl chr 2:175,993,922...175,999,544
JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:179,191,688...179,197,098
Ensembl chr 2:179,191,715...179,197,044
JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,999,439...176,005,933 JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,008,395...176,010,423
Ensembl chr 2:176,008,395...176,010,423
JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,016,405...176,022,117
Ensembl chr 2:176,016,268...176,022,117
JBrowse link
G S100a2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,077,081...176,078,325 JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,034,283...176,089,702
Ensembl chr 2:176,049,520...176,089,702
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,095,332...176,099,546
Ensembl chr 2:176,097,539...176,099,546
JBrowse link
G S100a6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
JBrowse link
G S100a7a S100 calcium binding protein A7A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441
JBrowse link
G S100a8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,583,124...174,588,984
Ensembl chr 2:174,570,653...174,588,985
JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,494,004...182,504,594
Ensembl chr 2:182,493,978...182,504,594
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,733,635...182,750,066
Ensembl chr 2:182,737,474...182,746,856
JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
JBrowse link
G Sf3b4 splicing factor 3B subunit 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669
JBrowse link
G Slc25a44 solute carrier family 25, member 44 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,868,317...173,883,137
Ensembl chr 2:173,868,320...173,883,020
JBrowse link
G Slc27a3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,853,241...175,857,909
Ensembl chr 2:175,853,241...175,857,909
JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058
JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,677,985...174,680,366
Ensembl chr 2:174,677,708...174,680,366
JBrowse link
G Smcp sperm mitochondria-associated cysteine-rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,160,948...178,165,951
Ensembl chr 2:178,160,127...178,166,001
JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,804,987...173,832,102
Ensembl chr 2:173,805,019...173,832,102
JBrowse link
G Snapin SNAP-associated protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,971,575...175,974,164
Ensembl chr 2:175,971,257...175,974,231
JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906
JBrowse link
G Sprr1a small proline-rich protein 1A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,055,096...178,057,012
Ensembl chr 2:178,055,096...178,057,063
JBrowse link
G Sprr1b small proline-rich protein 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,008,844...178,010,742
Ensembl chr 2:178,009,130...178,009,567
JBrowse link
G Sprr2a2 small proline-rich protein 2A2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,719,576...177,719,845
Ensembl chr 2:177,719,576...177,719,845
JBrowse link
G Sprr2b small proline rich protein 2B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096
JBrowse link
G Sprr2d small proline-rich protein 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,870,082...177,870,679
Ensembl chr 2:177,870,434...177,870,679
JBrowse link
G Sprr2f small proline rich protein 2F ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,989,974...177,990,204
Ensembl chr 2:177,989,974...177,990,204
JBrowse link
G Sprr3 small proline-rich protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,027,743...178,028,501
Ensembl chr 2:178,027,425...178,029,891
JBrowse link
G Sprr4 small proline-rich protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,082,466...178,083,125
Ensembl chr 2:178,082,871...178,083,104
JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042
JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964
JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184
JBrowse link
G Tchh trichohyalin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:179,103,660...179,112,014
Ensembl chr 2:179,109,609...179,110,985
Ensembl chr 2:179,109,609...179,110,985
JBrowse link
G Tchhl1 trichohyalin-like 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:179,134,941...179,138,467
Ensembl chr 2:179,135,796...179,138,202
JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,049,175...182,071,516
Ensembl chr 2:182,049,215...182,070,755
JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594
JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:181,953,550...181,974,708
Ensembl chr 2:181,953,550...181,974,708
JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:181,980,783...181,986,002
Ensembl chr 2:181,980,783...181,986,002
JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,695,709...182,700,540
Ensembl chr 2:182,695,709...182,700,540
JBrowse link
G Tnfaip8l2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,710,433...182,726,724
Ensembl chr 2:182,709,378...182,726,760
JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013
JBrowse link
G Trim46 tripartite motif-containing 46 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,641,494...174,654,237
Ensembl chr 2:174,641,496...174,654,141
JBrowse link
G Tsacc TSSK6 activating co-chaperone ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,755,841...173,765,564
Ensembl chr 2:173,753,786...173,765,404
JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,525,204...173,533,182
Ensembl chr 2:173,524,600...173,533,107
JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192
JBrowse link
G Ubap2l ubiquitin associated protein 2-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998
JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,198,793...175,209,152
Ensembl chr 2:175,198,873...175,207,942
JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059
JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:23599270 PMID:23738510 PMID:25640679 More... NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,678,594...182,690,185
Ensembl chr 2:182,678,609...182,690,182
JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,795,831...174,811,980
Ensembl chr 2:174,797,453...174,814,236
JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647
JBrowse link
severe congenital neutropenia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
JBrowse link
G Jagn1 jagunal homolog 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.H44Y (human)
OMIM
CTD
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:25851723 More... RGD:11531099, RGD:11531098 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:9536098 PMID:10449521 PMID:16199547 PMID:17576681 PMID:23604229 More... NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
JBrowse link
severe congenital neutropenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant OMIM
ClinVar
PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
JBrowse link
Severe Congenital Neutropenia 9, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:34115842 NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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 chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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
ISS
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
OMIM:193670
ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
OMIM
RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... RGD:734860 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116
JBrowse link
G Lct lactase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456
JBrowse link
G Mcm6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,826,745...39,851,937
Ensembl chr13:39,826,763...39,851,960
JBrowse link
G Mir128-1 microRNA 128-1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,699,449...39,699,530
Ensembl chr13:39,699,449...39,699,530
JBrowse link
G R3hdm1 R3H domain containing 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,595,848...39,733,876
Ensembl chr13:39,595,848...39,733,876
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 chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
JBrowse link
G Ubxn4 UBX domain protein 4 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,740,064...39,772,493
Ensembl chr13:39,740,107...39,772,491
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 chr13:39,440,653...39,595,782
Ensembl chr13:39,440,889...39,595,670
JBrowse link
WHIM Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: WHIM syndrome 2 OMIM
ClinVar
PMID:24777453 PMID:25741868 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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
CTD Direct Ev