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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:severe congenital neutropenia 5
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Accession:DOID:0112132 term browser browse the term
Definition:A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. (DO)
Synonyms:exact_synonym: SCN5;   VPS45 deficiency;   congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome;   congenital neutropenia-myelofibrosis-nephromegaly syndrome;   severe congenital neutropenia 5, autosomal recessive
 primary_id: OMIM:615285
 xref: ORDO:369852


show annotations for term's descendants           Sort by:
severe congenital neutropenia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933434E20Rik RIKEN cDNA 4933434E20 gene ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648 		JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,246,947...89,257,589
Ensembl chr 3:89,245,849...89,257,303 		JBrowse link
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		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 3:95,836,557...95,854,699
Ensembl chr 3:95,836,558...95,854,702 		JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,203,404...95,222,491
Ensembl chr 3:95,203,407...95,214,487 		JBrowse link
G Aph1a aph1 homolog A, gamma secretase subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,801,233...95,805,904
Ensembl chr 3:95,801,281...95,805,600 		JBrowse link
G Aqp10-ps aquaporin 10, pseudogene ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,870,751...89,877,041
Ensembl chr 3:89,872,016...89,875,998 		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 3:88,500,427...88,556,839
Ensembl chr 3:88,513,273...88,555,359 		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 3:95,341,674...95,404,551
Ensembl chr 3:95,341,699...95,404,551 		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 3:88,857,721...88,986,682
Ensembl chr 3:88,857,929...88,986,682 		JBrowse link
G Atp8b2 ATPase, class I, type 8B, member 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,846,795...89,870,645
Ensembl chr 3:89,846,788...89,870,815 		JBrowse link
G BC028528 cDNA sequence BC028528 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,789,665...95,800,186
Ensembl chr 3:95,791,266...95,799,317 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537 		JBrowse link
G Bglap bone gamma carboxyglutamate protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771 		JBrowse link
G Bnipl BCL2/adenovirus E1B 19kD interacting protein like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,148,587...95,158,504
Ensembl chr 3:95,148,582...95,158,504 		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 3:94,269,720...94,271,874
Ensembl chr 3:94,269,745...94,271,873 		JBrowse link
G Car14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,805,080...95,812,443
Ensembl chr 3:95,805,080...95,812,003 		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 3:88,204,442...88,229,073
Ensembl chr 3:88,204,423...88,229,074 		JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,135,735...95,143,735
Ensembl chr 3:95,136,043...95,143,720 		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 3:94,385,581...94,405,822
Ensembl chr 3:94,385,602...94,399,505 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,222,077...95,230,910
Ensembl chr 3:95,222,102...95,230,910 		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 3:89,970,115...89,975,654
Ensembl chr 3:89,970,103...89,973,182 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,667,376...94,695,036
Ensembl chr 3:94,667,376...94,693,826 		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 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805 		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 3:95,785,812...95,790,012
Ensembl chr 3:95,785,815...95,789,563 		JBrowse link
G Cks1b CDC28 protein kinase 1b ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,322,779...89,325,598
Ensembl chr 3:89,322,779...89,325,690 		JBrowse link
G Clk2 CDC-like kinase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,072,102...89,084,394
Ensembl chr 3:89,072,102...89,084,228 		JBrowse link
G Crabp2 cellular retinoic acid binding protein II ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,856,000...87,860,679
Ensembl chr 3:87,855,973...87,860,683 		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 3:92,921,512...92,922,993
Ensembl chr 3:92,921,512...92,922,994 		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 3:90,144,805...90,161,387
Ensembl chr 3:90,144,807...90,150,819 		JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,052,096...93,057,125
Ensembl chr 3:93,052,094...93,057,126 		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 3:90,161,475...90,171,432
Ensembl chr 3:90,161,470...90,171,432 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673 		JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714 		JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,828,110...88,858,504
Ensembl chr 3:88,828,110...88,858,488 		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 3:89,257,526...89,272,560
Ensembl chr 3:89,257,526...89,272,560 		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 3:89,257,724...89,284,950
Ensembl chr 3:89,269,282...89,284,856 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,172,281...90,187,972
Ensembl chr 3:90,172,492...90,187,976 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase polypeptide 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,166,567...89,174,386
Ensembl chr 3:89,166,665...89,174,386 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,641,459...95,646,880
Ensembl chr 3:95,641,459...95,646,881 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,179,037...89,188,258
Ensembl chr 3:89,179,040...89,188,449 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,221,200...89,231,359
Ensembl chr 3:89,221,206...89,230,272 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,240,700...89,245,335
Ensembl chr 3:89,240,697...89,245,335 		JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,532,291...95,539,428
Ensembl chr 3:95,532,304...95,539,413 		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 3:89,089,996...89,096,598
Ensembl chr 3:89,090,450...89,096,602 		JBrowse link
G Fdps farnesyl diphosphate synthetase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,000,895...89,009,274
Ensembl chr 3:89,000,895...89,009,266 		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 3:89,309,980...89,319,188
Ensembl chr 3:89,308,311...89,319,177 		JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,180,853...93,200,996
Ensembl chr 3:93,180,830...93,200,993 		JBrowse link
G Flg2 filaggrin family member 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,104,585...93,128,701
Ensembl chr 3:93,104,585...93,128,698 		JBrowse link
G Gabpb2 GA repeat binding protein, beta 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,089,077...95,125,291
Ensembl chr 3:95,089,077...95,125,227 		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 3:90,200,488...90,270,712
Ensembl chr 3:90,200,485...90,270,714 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,232,330...88,235,938
Ensembl chr 3:88,232,330...88,238,620 		JBrowse link
G Gm128 predicted gene 128 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,144,230...95,148,946
Ensembl chr 3:95,144,231...95,148,909 		JBrowse link
G Gm3764 predicted gene 3764 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,113,980...88,137,266
Ensembl chr 3:88,113,837...88,137,268 		JBrowse link
G Golph3l golgi phosphoprotein 3-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,496,280...95,526,553
Ensembl chr 3:95,496,245...95,526,553 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,742,531...88,817,406
Ensembl chr 3:88,742,535...88,817,410 		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 3:87,950,413...87,963,301
Ensembl chr 3:87,950,415...87,963,300 		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 3:87,927,865...87,934,818
Ensembl chr 3:87,929,057...87,934,890 		JBrowse link
G Hax1 HCLS1 associated X-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,902,753...89,906,023
Ensembl chr 3:89,902,753...89,906,087 		JBrowse link
G Hcn3 hyperpolarization-activated, cyclic nucleotide-gated K+ 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,054,082...89,067,538
Ensembl chr 3:89,053,381...89,067,503 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,813,844...87,823,439
Ensembl chr 3:87,813,628...87,823,439 		JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,466,988...95,495,174
Ensembl chr 3:95,466,988...95,494,982 		JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,227,056...93,240,879
Ensembl chr 3:93,227,056...93,240,877 		JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		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 3:90,383,421...90,395,686
Ensembl chr 3:90,383,433...90,395,686 		JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,704,215...87,723,408
Ensembl chr 3:87,704,258...87,723,408 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,298,691...90,340,800
Ensembl chr 3:90,298,695...90,340,929 		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 3:87,989,309...88,028,355
Ensembl chr 3:87,989,278...88,028,355 		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 3:87,837,602...87,847,994
Ensembl chr 3:87,837,621...87,847,993 		JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,478,206...92,481,097
Ensembl chr 3:92,478,209...92,481,042 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,138,904...90,143,147
Ensembl chr 3:90,138,904...90,143,145 		JBrowse link
G Kcnn3 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,427,471...89,579,801
Ensembl chr 3:89,427,471...89,582,439 		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 3:88,593,087...88,620,240
Ensembl chr 3:88,593,110...88,620,231 		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 3:92,775,666...92,777,512
Ensembl chr 3:92,775,666...92,777,523 		JBrowse link
G Kprp keratinocyte expressed, proline-rich ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,730,381...92,734,554
Ensembl chr 3:92,730,381...92,734,554 		JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,153,201...89,157,036
Ensembl chr 3:89,153,273...89,157,213 		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 3:88,457,126...88,460,258
Ensembl chr 3:88,457,126...88,460,381 		JBrowse link
G Lce1b late cornified envelope 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,562,957...92,564,233
Ensembl chr 3:92,562,957...92,564,233 		JBrowse link
G Lce1c late cornified envelope 1C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,586,554...92,588,225
Ensembl chr 3:92,586,554...92,588,225 		JBrowse link
G Lce1d late cornified envelope 1D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,592,806...92,594,517
Ensembl chr 3:92,592,806...92,594,517 		JBrowse link
G Lce1e late cornified envelope 1E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,614,707...92,616,381
Ensembl chr 3:92,614,708...92,616,381 		JBrowse link
G Lce1f late cornified envelope 1F ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,626,003...92,627,657
Ensembl chr 3:92,625,992...92,627,657 		JBrowse link
G Lce1m late cornified envelope 1M ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,925,114...92,926,368
Ensembl chr 3:92,925,117...92,926,367 		JBrowse link
G Lce3c late cornified envelope 3C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,851,793...92,853,038
Ensembl chr 3:92,851,793...92,853,040 		JBrowse link
G Lce3d late cornified envelope 3D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,864,695...92,865,881
Ensembl chr 3:92,864,697...92,865,812 		JBrowse link
G Lce3e late cornified envelope 3E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,874,368...92,875,588
Ensembl chr 3:92,874,368...92,875,588 		JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,512,128...92,528,975
Ensembl chr 3:92,527,388...92,528,967 		JBrowse link
G Lelp1 late cornified envelope-like proline-rich 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,042,301...92,050,061
Ensembl chr 3:92,042,304...92,050,051 		JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,309,203...89,309,957
Ensembl chr 3:89,308,295...89,310,100 		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 3:94,306,526...94,311,820
Ensembl chr 3:94,305,824...94,311,808 		JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		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 3:91,987,578...91,990,447
Ensembl chr 3:91,987,578...91,990,449 		JBrowse link
G Lysmd1 LysM, putative peptidoglycan-binding, domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,041,399...95,046,836
Ensembl chr 3:95,041,399...95,046,829 		JBrowse link
G Mcl1 myeloid cell leukemia sequence 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,564,017...95,583,553
Ensembl chr 3:95,566,099...95,570,487 		JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,049,248...88,079,398
Ensembl chr 3:88,049,679...88,079,393 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,829,908...87,838,337
Ensembl chr 3:87,829,908...87,838,024 		JBrowse link
G Mex3a mex3 RNA binding family member A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,439,253...88,448,701
Ensembl chr 3:88,439,702...88,448,703 		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 3:95,189,237...95,203,477
Ensembl chr 3:95,188,656...95,203,477 		JBrowse link
G Mir9-1 microRNA 9-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,122,905...88,122,993
Ensembl chr 3:88,122,905...88,122,993 		JBrowse link
G Mllt11 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,125,852...95,139,486
Ensembl chr 3:95,126,446...95,139,482 		JBrowse link
G Mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,825,438...87,830,757
Ensembl chr 3:87,826,813...87,830,979 		JBrowse link
G Mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,350,631...94,355,831
Ensembl chr 3:94,350,625...94,358,437 		JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,769,946...95,778,826
Ensembl chr 3:95,769,946...95,778,831 		JBrowse link
G Msto1 misato 1, mitochondrial distribution and morphology regulator ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,816,923...88,821,257
Ensembl chr 3:88,812,414...88,821,306 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:96,069,287...96,079,034
Ensembl chr 3:96,069,321...96,079,034 		JBrowse link
G Mtx1 metaxin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,116,388...89,121,214
Ensembl chr 3:89,116,388...89,134,395 		JBrowse link
G Muc1 mucin 1, transmembrane ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688 		JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,963,827...87,965,851
Ensembl chr 3:87,963,827...87,965,802 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,357,898...90,373,235
Ensembl chr 3:90,357,898...90,373,173 		JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,011,445...90,119,458
Ensembl chr 3:90,011,439...90,119,355 		JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,340,694...94,343,958
Ensembl chr 3:94,339,721...94,351,222 		JBrowse link
G Otud7b OTU domain containing 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:96,011,759...96,068,446
Ensembl chr 3:96,011,839...96,068,446 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member VI ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,271,376...88,275,848
Ensembl chr 3:88,271,891...88,275,848 		JBrowse link
G Pbxip1 pre B cell leukemia transcription factor interacting protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,343,982...89,358,259
Ensembl chr 3:89,344,013...89,358,259 		JBrowse link
G Pglyrp3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:91,919,784...91,939,979
Ensembl chr 3:91,921,890...91,938,889 		JBrowse link
G Pglyrp4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,634,008...90,648,824
Ensembl chr 3:90,634,213...90,648,824 		JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,882,042...94,914,248
Ensembl chr 3:94,882,042...94,914,154 		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 3:94,965,841...95,014,241
Ensembl chr 3:94,965,841...95,014,241 		JBrowse link
G Pklr pyruvate kinase liver and red blood cell ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091 		JBrowse link
G Plekho1 pleckstrin homology domain containing, family O member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,896,110...95,903,258
Ensembl chr 3:95,895,741...95,903,313 		JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,301,445...88,317,752
Ensembl chr 3:88,301,450...88,317,638 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,361,848...89,376,321
Ensembl chr 3:89,361,848...89,376,320 		JBrowse link
G Pogz pogo transposable element with ZNF domain ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,730,289...94,790,888
Ensembl chr 3:94,744,878...94,789,637 		JBrowse link
G Prcc papillary renal cell carcinoma (translocation-associated) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,766,210...87,792,869
Ensembl chr 3:87,766,210...87,792,915 		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 3:95,737,436...95,763,197
Ensembl chr 3:95,737,436...95,763,197 		JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,029,511...92,031,254
Ensembl chr 3:92,029,511...92,031,254 		JBrowse link
G Prune1 prune exopolyphosphatase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,160,985...95,190,817
Ensembl chr 3:95,160,985...95,189,387 		JBrowse link
G Psmb4 proteasome (prosome, macropain) subunit, beta type 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,791,635...94,794,269
Ensembl chr 3:94,791,404...94,794,272 		JBrowse link
G Psmd4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,939,999...94,949,880
Ensembl chr 3:94,940,005...94,949,925 		JBrowse link
G Pygo2 pygopus 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,337,521...89,342,438
Ensembl chr 3:89,337,521...89,342,435 		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 3:90,121,022...90,133,694
Ensembl chr 3:90,121,002...90,133,692 		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 3:88,449,335...88,455,586
Ensembl chr 3:88,449,336...88,455,607 		JBrowse link
G Rfx5 regulatory factor X, 5 (influences HLA class II expression) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,861,355...94,868,685
Ensembl chr 3:94,861,386...94,868,872 		JBrowse link
G Rhbg Rhesus blood group-associated B glycoprotein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,150,181...88,162,046
Ensembl chr 3:88,150,181...88,162,016 		JBrowse link
G Riiad1 regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,372,291...94,387,661
Ensembl chr 3:94,372,290...94,387,648 		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 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356 		JBrowse link
G Rorc RAR-related orphan receptor gamma ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,280,106...94,305,583
Ensembl chr 3:94,280,101...94,305,583 		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 3:95,667,183...95,727,034
Ensembl chr 3:95,667,653...95,726,175 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,119,974...90,120,955
Ensembl chr 3:90,119,829...90,120,958 		JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,301,006...93,306,749
Ensembl chr 3:93,301,006...93,306,749 		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 3:88,991,282...89,000,670
Ensembl chr 3:88,991,288...89,000,618 		JBrowse link
G Rxfp4 relaxin family peptide receptor 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,559,081...88,560,489
Ensembl chr 3:88,559,205...88,560,449 		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 3:90,418,341...90,421,637
Ensembl chr 3:90,418,341...90,421,699 		JBrowse link
G S100a10 S100 calcium binding protein A10 (calpactin) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,462,424...93,471,952
Ensembl chr 3:93,462,387...93,471,950 		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 3:93,427,803...93,433,595
Ensembl chr 3:93,427,795...93,433,594 		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 3:90,421,542...90,431,888
Ensembl chr 3:90,421,742...90,431,888 		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 3:90,434,156...90,436,144
Ensembl chr 3:90,434,163...90,436,144 		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 3:90,444,561...90,450,458
Ensembl chr 3:90,444,561...90,450,458 		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 3:90,497,554...90,498,815
Ensembl chr 3:90,467,670...90,498,838 		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 3:90,467,571...90,510,922
Ensembl chr 3:90,491,966...90,510,009 		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 3:90,511,077...90,513,349
Ensembl chr 3:90,511,078...90,513,352 		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 3:90,513,787...90,519,091
Ensembl chr 3:90,515,830...90,519,087 		JBrowse link
G S100a6 S100 calcium binding protein A6 (calcyclin) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,520,491...90,531,797
Ensembl chr 3:90,520,189...90,531,488 		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 3:90,561,609...90,565,437
Ensembl chr 3:90,561,324...90,565,976 		JBrowse link
G S100a8 S100 calcium binding protein A8 (calgranulin A) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,576,378...90,577,341
Ensembl chr 3:90,576,285...90,577,342 		JBrowse link
G S100a9 S100 calcium binding protein A9 (calgranulin B) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,599,937...90,603,028
Ensembl chr 3:90,599,939...90,603,028 		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 3:89,084,698...89,090,077
Ensembl chr 3:89,084,780...89,090,072 		JBrowse link
G Scnm1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,037,030...95,041,285
Ensembl chr 3:95,036,847...95,041,322 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,840,394...94,852,069
Ensembl chr 3:94,840,367...94,852,069 		JBrowse link
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		JBrowse link
G Sema6c sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,067,731...95,081,361
Ensembl chr 3:95,067,768...95,081,335 		JBrowse link
G Setdb1 SET domain, bifurcated 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,230,836...95,264,513
Ensembl chr 3:95,230,836...95,264,513 		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 3:96,079,822...96,084,880
Ensembl chr 3:96,079,648...96,084,880 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,754,070...87,763,116
Ensembl chr 3:87,754,062...87,763,029 		JBrowse link
G Shc1 src homology 2 domain-containing transforming protein C1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334 		JBrowse link
G She src homology 2 domain-containing transforming protein E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,738,667...89,766,149
Ensembl chr 3:89,738,677...89,766,141 		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 3:88,317,801...88,334,303
Ensembl chr 3:88,317,805...88,332,446 		JBrowse link
G Slc27a3 solute carrier family 27 (fatty acid transporter), member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,292,540...90,298,693
Ensembl chr 3:90,292,546...90,297,245 		JBrowse link
G Slc39a1 solute carrier family 39 (zinc transporter), member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,155,512...90,160,923
Ensembl chr 3:90,155,479...90,160,919 		JBrowse link
G Slc50a1 solute carrier family 50 (sugar transporter), member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,175,553...89,177,878
Ensembl chr 3:89,175,553...89,177,877 		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 3:92,491,173...92,496,380
Ensembl chr 3:92,491,174...92,496,304 		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 3:88,242,050...88,269,645
Ensembl chr 3:88,243,567...88,269,645 		JBrowse link
G Snapin SNAP-associated protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,395,333...90,398,320
Ensembl chr 3:90,395,333...90,398,340 		JBrowse link
G Snx27 sorting nexin family member 27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,404,849...94,490,023
Ensembl chr 3:94,404,851...94,490,023 		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 3:92,391,261...92,393,188
Ensembl chr 3:92,391,259...92,393,202 		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 3:92,344,115...92,346,124
Ensembl chr 3:92,344,116...92,346,096 		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 3:92,224,012...92,225,448
Ensembl chr 3:92,223,927...92,225,392 		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 3:92,246,447...92,248,187
Ensembl chr 3:92,246,447...92,248,180 		JBrowse link
G Sprr2e small proline-rich protein 2E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,259,450...92,260,757
Ensembl chr 3:92,259,450...92,260,756 		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 3:92,272,494...92,273,754
Ensembl chr 3:92,272,494...92,273,749 		JBrowse link
G Sprr2g small proline-rich protein 2G ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,281,222...92,282,536
Ensembl chr 3:92,281,222...92,282,536 		JBrowse link
G Sprr2h small proline-rich protein 2H ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,292,992...92,294,631
Ensembl chr 3:92,292,992...92,294,631 		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 3:92,363,809...92,366,027
Ensembl chr 3:92,363,809...92,366,027 		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 3:92,407,570...92,407,800
Ensembl chr 3:92,407,570...92,407,800 		JBrowse link
G Ssr2 signal sequence receptor, beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,486,915...88,495,727
Ensembl chr 3:88,483,183...88,495,726 		JBrowse link
G Syt11 synaptotagmin XI ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,652,006...88,682,466
Ensembl chr 3:88,652,007...88,682,471 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial (putative) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,647,286...95,663,677
Ensembl chr 3:95,647,288...95,667,518 		JBrowse link
G Tchh trichohyalin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,348,071...93,356,382
Ensembl chr 3:93,349,637...93,356,384 		JBrowse link
G Tchhl1 trichohyalin-like 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,376,061...93,379,287
Ensembl chr 3:93,376,061...93,379,287 		JBrowse link
G Tdrkh tudor and KH domain containing protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,320,551...94,342,161
Ensembl chr 3:94,320,580...94,341,975 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,122,470...89,134,148
Ensembl chr 3:89,122,487...89,134,144 		JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,217,415...94,239,847
Ensembl chr 3:94,217,396...94,239,847 		JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,249,406...94,254,659
Ensembl chr 3:94,249,406...94,254,659 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,236,351...88,241,761
Ensembl chr 3:88,235,962...88,243,455 		JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,030,110...95,036,520
Ensembl chr 3:95,031,787...95,036,520 		JBrowse link
G Tnfaip8l2 tumor necrosis factor, alpha-induced protein 8-like 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,046,832...95,051,581
Ensembl chr 3:95,046,832...95,049,671 		JBrowse link
G Tpm3 tropomyosin 3, gamma ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,979,958...90,008,209
Ensembl chr 3:89,979,956...90,008,209 		JBrowse link
G Trim46 tripartite motif-containing 46 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,141,476...89,153,655
Ensembl chr 3:89,141,484...89,153,616 		JBrowse link
G Tsacc TSSK6 activating co-chaperone ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,190,059...88,204,306
Ensembl chr 3:88,190,064...88,204,306 		JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,976,717...87,985,611
Ensembl chr 3:87,977,334...87,982,824
Ensembl chr 3:87,977,334...87,982,824 		JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,520,060...94,566,179
Ensembl chr 3:94,520,064...94,566,179 		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 3:89,906,896...89,959,867
Ensembl chr 3:89,907,447...89,959,935 		JBrowse link
G Ube2q1 ubiquitin-conjugating enzyme E2Q family member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,680,905...89,691,304
Ensembl chr 3:89,680,923...89,691,307 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,460,984...88,477,032
Ensembl chr 3:88,461,065...88,477,032 		JBrowse link
G Vps45 vacuolar protein sorting 45 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome | ClinVar Annotator: match by term: Severe congenital neutropenia 5, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:23599270 PMID:23738510 PMID:25640679 More... NCBI chr 3:95,907,144...95,969,715
Ensembl chr 3:95,907,144...95,965,778 		JBrowse link
G Vps72 vacuolar protein sorting 72 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,018,353...95,030,362
Ensembl chr 3:95,018,333...95,030,362 		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 3:89,284,953...89,300,976
Ensembl chr 3:89,284,951...89,302,083 		JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,901,726...94,923,259
Ensembl chr 3:94,913,901...94,922,759 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    physical disorder 5016
      severe congenital neutropenia 306
        severe congenital neutropenia 5 213
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      Hemic and Lymphatic Diseases 3777
        hematopoietic system disease 3274
          leukocyte disease 1285
            leukopenia 541
              agranulocytosis 502
                neutropenia 498
                  severe congenital neutropenia 306
                    severe congenital neutropenia 5 213
paths to the root