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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal granulocyte count
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Accession:HP:0032309 term browser browse the term
Definition:Any deviation from the normal cell count per volume of granulocytes in the blood circulation.
Comment:Granulocytes belong to the innate immune system and make up the largest proportion of white blood cells. They are myeloid cells and can be classified as neutrophil granulocytes (neutrophils), eosinophils, basophils, monocytes, and mast cells.


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Abnormal eosinophil count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD27 ankyrin repeat domain 27 IAGP DNA:SNPs:intron: (rs3815700, rs10410895) RGD PMID:25407941 RGD:11100048 NCBI chr19:32,597,006...32,675,180
Ensembl chr19:32,597,006...32,676,597 		JBrowse link
Abnormal neutrophil count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEBPE CCAAT enhancer binding protein epsilon IAGP HPO MIM:245480 NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase treatment IAGP associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 RGD PMID:23942539 RGD:11251737 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment IAGP associated with Colorectal Neoplasms;DNA:SNP RGD PMID:23543295 RGD:11340199 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment IAGP associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) RGD PMID:21047201 RGD:11098572 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO ORPHA:228423 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
Agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NQO2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 IAGP associated with schizophrenia;DNA:SNPs:exons, intron:multiple RGD PMID:14617031 RGD:11073696 NCBI chr 6:2,999,894...3,019,755
Ensembl chr 6:2,987,987...3,019,755 		JBrowse link
G TLR8 toll like receptor 8 IAGP HPO MIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
Chronic neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC40 cell division cycle 40 IAGP HPO MIM:619302 NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 IAGP HPO MIM:619407 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP HPO ORPHA:500095 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 IAGP HPO MIM:619301 NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
Congenital agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK2 adenylate kinase 2 IAGP HPO MIM:267500 NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996 		JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO MIM:202700 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
Cyclic neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELANE elastase, neutrophil expressed IAGP ClinVar Annotator: match by term: Neutropenia cyclic ClinVar
HPO		 MIM:162800 ORPHA:2686 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO MIM:232240 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP HPO MIM:302060 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
Decreased basophil count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BACH2 BTB domain and CNC homolog 2 IAGP HPO MIM:618394 NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843 		JBrowse link
Decreased eosinophil count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:96253 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:96253 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CARD10 caspase recruitment domain family member 10 IAGP HPO MIM:619632 NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:96253 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:2686 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO ORPHA:96253 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:96253 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G USP48 ubiquitin specific peptidase 48 IAGP HPO ORPHA:96253 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:96253 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IAGP HPO MIM:102700 ORPHA:39041 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G BCL11B BCL11 transcription factor B IAGP HPO MIM:617237 MIM:618092 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197 		JBrowse link
G BTNL2 butyrophilin like 2 IAGP HPO ORPHA:797 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G CAPN3 calpain 3 IAGP HPO MIM:253600 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CARD11 caspase recruitment domain family member 11 IAGP HPO MIM:617638 NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228 		JBrowse link
G CASP10 caspase 10 IAGP HPO MIM:603909 ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CD247 CD247 molecule IAGP HPO MIM:610163 ORPHA:169160 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP HPO ORPHA:169160 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,334,537...118,342,705 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP HPO ORPHA:169160 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175 		JBrowse link
G CDSN corneodesmosin IAGP HPO MIM:270300 NCBI chr 6:31,115,087...31,120,446
Ensembl chr 6:31,115,087...31,120,446 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:39041 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:486 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO MIM:602450 MIM:603554 ORPHA:39041 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP DNA:mutations: :
DNA:mutations:cds:		 HPO
RGD		 PMID:22534316 PMID:22476911 MIM:243700, RGD:40902960, RGD:40903056 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO MIM:202700 ORPHA:486 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO MIM:617425 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO MIM:601859 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO MIM:601859 ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO MIM:304790 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP HPO ORPHA:486 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:797 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO MIM:308300 ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO ORPHA:39041 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO MIM:618523 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G IL7R interleukin 7 receptor IAGP HPO ORPHA:169154 ORPHA:39041 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G IRF8 interferon regulatory factor 8 IAGP HPO MIM:226990 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606 		JBrowse link
G JAK1 Janus kinase 1 IAGP HPO MIM:618999 NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:39041 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO MIM:607115 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO MIM:607685 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:131440 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO MIM:615816 ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP HPO MIM:619802 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G RAG1 recombination activating 1 IAGP HPO MIM:603554 ORPHA:331206 ORPHA:39041 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RAG2 recombination activating 2 IAGP HPO MIM:603554 ORPHA:331206 ORPHA:39041 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO MIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:39041 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:616651 ORPHA:353298 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G SLC27A4 solute carrier family 27 member 4 IAGP HPO ORPHA:88621 NCBI chr 9:128,340,527...128,361,470
Ensembl chr 9:128,340,527...128,361,470 		JBrowse link
G SLC46A1 solute carrier family 46 member 1 IAGP HPO ORPHA:90045 NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO MIM:158310 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G SRP19 signal recognition particle 19 IAGP HPO ORPHA:486 NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO MIM:147060 MIM:615952 ORPHA:2314 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP HPO MIM:620532 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
G TBX21 T-box transcription factor 21 IAGP HPO MIM:619630 NCBI chr17:47,733,236...47,746,122
Ensembl chr17:47,733,236...47,746,122 		JBrowse link
G TBXA2R thromboxane A2 receptor IAGP DNA:polymorphism:cds:924T>C(human) RGD PMID:15805995 RGD:11059534 NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:486 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:98849 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:301000 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO ORPHA:911 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,744,327 		JBrowse link
G ZNF341 zinc finger protein 341 IAGP HPO MIM:618282 NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269 		JBrowse link
Granulocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS28 ribosomal protein S28 IAGP HPO MIM:606164 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP HPO ORPHA:75564 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP HPO MIM:302060 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:75564 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G UNC13D unc-13 homolog D IAGP HPO MIM:608898 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
Hypereosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARD9 caspase recruitment domain family member 9 IAGP HPO MIM:212050 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP DNA:mutations: : RGD PMID:25724123 RGD:40886274 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G IPO8 importin 8 IAGP HPO MIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G NLRP1 NLR family pyrin domain containing 1 IAGP HPO MIM:617388 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424 		JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 IAGP HPO MIM:256500 NCBI chr 5:148,063,980...148,137,382
Ensembl chr 5:148,025,683...148,137,382 		JBrowse link
G TRAC T cell receptor alpha constant IAGP HPO MIM:615387 NCBI chr14:22,547,506...22,552,132
Ensembl chr14:22,547,506...22,552,156 		JBrowse link
Increased basophil count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:98849 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
Infection associated neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:445038 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ABCD4 ATP binding cassette subfamily D member 4 IAGP HPO MIM:614857 NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO MIM:607944 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO MIM:208400 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G AMN amnion associated transmembrane protein IAGP HPO ORPHA:35858 NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596 		JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP HPO MIM:608233 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP HPO MIM:617050 NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98850 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:231401 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:520 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BLNK B cell linker IAGP HPO MIM:613502 ORPHA:33110 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO MIM:300755 ORPHA:47 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G C16orf92 chromosome 16 open reading frame 92 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr16:30,023,198...30,027,736
Ensembl chr16:30,023,198...30,027,736 		JBrowse link
G C1GALT1C1 C1GALT1 specific chaperone 1 IAGP HPO MIM:301110 NCBI chr  X:120,625,674...120,630,054
Ensembl chr  X:120,625,674...120,630,054 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta IAGP HPO MIM:617799 NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:98850 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CCNQ cyclin Q IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G CD40 CD40 molecule IAGP HPO MIM:606843 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand IAGP HPO MIM:308230 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CD79A CD79a molecule IAGP HPO MIM:613501 ORPHA:33110 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372 		JBrowse link
G CD79B CD79b molecule IAGP HPO ORPHA:33110 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336 		JBrowse link
G CFB complement factor B IAGP ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like IAGP ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:147,172,747...147,295,762
Ensembl chr 1:147,242,654...147,295,765 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO ORPHA:572 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP ClinVar Annotator: match by term: Neutropenia ClinVar
HPO		 PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More... MIM:616271 MIM:619835 ORPHA:445038 ORPHA:486 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO MIM:618150 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP HPO MIM:620771 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G CSF3R colony stimulating factor 3 receptor IAGP HPO MIM:617014 NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278 		JBrowse link
G CUBN cubilin IAGP HPO ORPHA:35858 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IAGP HPO MIM:193670 ORPHA:51636 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO ORPHA:494444 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:260400 MIM:617052 ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO MIM:617941 ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO ORPHA:1667 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G ELANE elastase, neutrophil expressed IAGP ClinVar Annotator: match by term: Neutropenia ClinVar
HPO		 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11722436 PMID:17576681 More... MIM:202700 ORPHA:486 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO MIM:242840 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G EPHX1 epoxide hydrolase 1 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment IAGP associated with ovary epithelial cancer;DNA:missense mutation:cds:p.D312N (rs1799793) HPO
RGD		 PMID:19786980 ORPHA:33364, RGD:5688741 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor treatment IAGP associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) RGD PMID:28924235 RGD:153323316 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ETV6 ETS variant transcription factor 6 IAGP HPO MIM:616216 NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377 		JBrowse link
G FANCA FA complementation group A IAGP HPO MIM:227650 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCC FA complementation group C IAGP HPO MIM:227645 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO MIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO MIM:600901 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCG FA complementation group G IAGP HPO MIM:614082 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO MIM:609053 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP HPO MIM:620012 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FDX2 ferredoxin 2 IAGP HPO MIM:251900 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015 		JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP HPO ORPHA:520 NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382 		JBrowse link
G FMO3 flavin containing dimethylaniline monoxygenase 3 IAGP HPO MIM:602079 NCBI chr 1:171,090,905...171,117,819
Ensembl chr 1:171,090,901...171,117,819 		JBrowse link
G FNIP1 folliculin interacting protein 1 IAGP HPO MIM:619705 NCBI chr 5:131,641,714...131,797,017
Ensembl chr 5:131,641,714...131,797,017 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO MIM:304790 ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FUT8 fucosyltransferase 8 IAGP HPO MIM:618005 NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO MIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO MIM:300835 ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO MIM:614172 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP HPO MIM:607847 MIM:613107 ORPHA:486 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925 		JBrowse link
G GINS1 GINS complex subunit 1 IAGP HPO MIM:617827 NCBI chr20:25,407,673...25,448,563
Ensembl chr20:25,391,008...25,452,700 		JBrowse link
G GSS glutathione synthetase IAGP HPO MIM:266130 NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO MIM:616395 ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G HAX1 HCLS1 associated protein X-1 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar
HPO		 PMID:28492532 PMID:32581362 MIM:610738 NCBI chr 1:154,272,629...154,275,875
Ensembl chr 1:154,272,355...154,275,875 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone IAGP HPO MIM:619523 NCBI chr22:28,742,032...28,757,510
Ensembl chr22:28,742,039...28,757,515 		JBrowse link
G HTRA2 HtrA serine peptidase 2 IAGP HPO MIM:617248 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G IFNG interferon gamma IAGP HPO ORPHA:88 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP HPO MIM:601495 ORPHA:33110 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218 		JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 IAGP HPO ORPHA:33110 NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO MIM:301081 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO MIM:619752 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G IL7R interleukin 7 receptor IAGP HPO ORPHA:169154 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 IAGP HPO ORPHA:70592 NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO ORPHA:520 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,602,300...234,610,178 		JBrowse link
G JAGN1 jagunal homolog 1 IAGP HPO MIM:616022 NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349 		JBrowse link
G KIF11 kinesin family member 11 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:614470 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 IAGP HPO MIM:610798 ORPHA:90023 NCBI chr 1:156,054,782...156,058,506
Ensembl chr 1:156,054,782...156,058,506 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:169400 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 2:127,638,426...127,681,786
Ensembl chr 2:127,638,381...127,681,786 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP HPO MIM:277380 ORPHA:79284 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236 		JBrowse link
G LOC126861258 MED14-independent group 3 enhancer GRCh37_chr11:72012242-72013441 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More... NCBI chr11:72,301,198...72,302,397 JBrowse link
G LOC126863334 MED14-independent group 3 enhancer GRCh37_chrX:140991796-140992995 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr  X:141,904,010...141,905,209 JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A IAGP HPO ORPHA:33110 NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039 		JBrowse link
G LYST lysosomal trafficking regulator IAGP HPO MIM:214500 ORPHA:167 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO MIM:617243 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811 		JBrowse link
G MAGEC1 MAGE family member C1 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr  X:141,903,894...141,909,374
Ensembl chr  X:141,903,894...141,909,374 		JBrowse link
G MDM4 MDM4 regulator of p53 IAGP HPO MIM:618849 NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP HPO MIM:616738 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MMAA metabolism of cobalamin associated A IAGP HPO MIM:251100 NCBI chr 4:145,619,385...145,660,033
Ensembl chr 4:145,599,042...145,660,033 		JBrowse link
G MMAB metabolism of cobalamin associated B IAGP HPO MIM:251110 NCBI chr12:109,553,715...109,573,504
Ensembl chr12:109,553,715...109,573,580 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO MIM:277400 ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO MIM:251000 ORPHA:289916 ORPHA:79312 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MSN moesin IAGP HPO MIM:300988 NCBI chr  X:65,588,377...65,741,931
Ensembl chr  X:65,588,377...65,741,931 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase disease_progression
treatment		 IAGP DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) RGD PMID:19923983 PMID:21644011 RGD:10449398, RGD:10449407 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP HPO MIM:250940 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO ORPHA:2169 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G MUC16 mucin 16, cell surface associated IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr19:8,848,844...9,065,751
Ensembl chr19:8,848,844...9,010,390 		JBrowse link
G MYSM1 Myb like, SWIRM and MPN domains 1 IAGP HPO ORPHA:508542 NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090 		JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP HPO ORPHA:520 NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097 		JBrowse link
G NCAPG2 non-SMC condensin II complex subunit G2 IAGP HPO MIM:618460 NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,631,169...158,704,804 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP HPO MIM:618253 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:520 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:614470 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP HPO ORPHA:520 NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693 		JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP HPO MIM:618067 NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha IAGP HPO MIM:606054 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP HPO MIM:606054 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO MIM:615816 ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO MIM:615214 ORPHA:33110 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PKP3 plakophilin 3 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr11:392,596...404,908
Ensembl chr11:392,614...404,908 		JBrowse link
G PML PML nuclear body scaffold IAGP HPO ORPHA:520 NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit treatment IAGP associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) RGD PMID:28924235 RGD:153323316 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLR3C RNA polymerase III subunit C IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr 1:145,824,200...145,844,402
Ensembl chr 1:145,824,053...145,844,402 		JBrowse link
G PRDX1 peroxiredoxin 1 IAGP HPO MIM:277400 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732 		JBrowse link
G PRF1 perforin 1 IAGP HPO ORPHA:540 ORPHA:88 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:520 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family IAGP HPO ORPHA:79477 NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113 		JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO MIM:618986 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594 		JBrowse link
G RARA retinoic acid receptor alpha IAGP HPO ORPHA:520 NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RFX5 regulatory factor X5 IAGP HPO ORPHA:572 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP HPO ORPHA:572 NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869 		JBrowse link
G RFXAP regulatory factor X associated protein IAGP HPO ORPHA:572 NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO MIM:250250 ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RNF128 ring finger protein 128 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr  X:106,693,838...106,797,016
Ensembl chr  X:106,693,794...106,797,016 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO MIM:612562 ORPHA:124 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL15 ribosomal protein L15 IAGP HPO ORPHA:124 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374 		JBrowse link
G RPL18 ribosomal protein L18 IAGP HPO MIM:618310 ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO MIM:614900 ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032 		JBrowse link
G RPL35 ribosomal protein L35 IAGP HPO ORPHA:124 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981 		JBrowse link
G RPL35A ribosomal protein L35a IAGP HPO ORPHA:124 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587 		JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO MIM:612527 ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO MIM:105650 ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RPS24 ribosomal protein S24 IAGP HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155 		JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO MIM:612563 ORPHA:124 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO ORPHA:98850 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP HPO MIM:619041 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO MIM:159550 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO MIM:260400 ORPHA:811 ORPHA:88 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP HPO MIM:617056 MIM:620674 NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP HPO ORPHA:75564 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079 		JBrowse link
G SH2D1A SH2 domain containing 1A IAGP HPO MIM:308240 NCBI chr  X:124,346,563...124,373,160
Ensembl chr  X:124,227,868...124,373,197 		JBrowse link
G SLC30A7 solute carrier family 30 member 7 IAGP HPO MIM:620501 NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,996,260 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP HPO MIM:603585 ORPHA:238459 NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP ClinVar Annotator: match by term: Neutropenia HPO
ClinVar		 PMID:10923042 PMID:12444104 PMID:15669677 PMID:17994282 PMID:25741868 More... MIM:232220 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC39A7 solute carrier family 39 member 7 IAGP HPO ORPHA:33110 NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439 		JBrowse link
G SLC46A1 solute carrier family 46 member 1 IAGP HPO MIM:229050 NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO MIM:242900 ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SMARCD2 SWI/SNF related BAF chromatin remodeling complex subunit D2 IAGP HPO MIM:617475 NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065 		JBrowse link
G SOD2 superoxide dismutase 2 susceptibility IAGP associated with female breast cancer, DNA:missense mutation:cds:p.V16A (rs4880) RGD PMID:20309628 RGD:11035278 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP HPO ORPHA:33110 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
G SRP19 signal recognition particle 19 IAGP HPO ORPHA:486 NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371 		JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO MIM:260400 MIM:618752 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G SRP68 signal recognition particle 68 IAGP HPO MIM:620534 NCBI chr17:76,038,785...76,072,517
Ensembl chr17:76,038,775...76,072,517 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98850 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:520 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO MIM:620443 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO ORPHA:520 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G STK4 serine/threonine kinase 4 IAGP HPO MIM:614868 NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,084,214 		JBrowse link
G STX11 syntaxin 11 IAGP HPO MIM:603552 ORPHA:540 NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO ORPHA:540 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP HPO MIM:302060 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO ORPHA:520 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G TCF3 transcription factor 3 IAGP HPO ORPHA:33110 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:486 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TCN2 transcobalamin 2 IAGP HPO MIM:275350 ORPHA:859 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271 		JBrowse link
G TDP2 tyrosyl-DNA phosphodiesterase 2 IAGP HPO MIM:616949 NCBI chr 6:24,649,979...24,666,899
Ensembl chr 6:24,649,979...24,666,930 		JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:88 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:613989 ORPHA:88 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:75564 ORPHA:98826 ORPHA:98850 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TFR2 transferrin receptor 2 IAGP HPO MIM:604250 NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779 		JBrowse link
G TFRC transferrin receptor IAGP HPO MIM:616740 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153 		JBrowse link
G THPO thrombopoietin IAGP HPO MIM:620481 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO MIM:268130 MIM:613990 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TLE2 TLE family member 2, transcriptional corepressor IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr19:2,997,644...3,047,635
Ensembl chr19:2,997,639...3,047,635 		JBrowse link
G TLR8 toll like receptor 8 IAGP HPO MIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TMEM63A transmembrane protein 63A IAGP ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:225,840,556...225,882,380
Ensembl chr 1:225,845,536...225,882,380 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO MIM:271510 ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TRAC T cell receptor alpha constant IAGP HPO MIM:615387 NCBI chr14:22,547,506...22,552,132
Ensembl chr14:22,547,506...22,552,156 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO ORPHA:124 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO ORPHA:163956 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
G UNC13D unc-13 homolog D IAGP HPO ORPHA:540 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO MIM:604173 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G USP3 ubiquitin specific peptidase 3 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr15:63,504,593...63,594,633
Ensembl chr15:63,504,511...63,594,640 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP ClinVar Annotator: match by term: Low neutrophil count
ClinVar Annotator: match by term: Neutropenia		 ClinVar
HPO		 PMID:15141358 PMID:15154116 PMID:16648375 PMID:17990063 PMID:20461111 More... MIM:216550 ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO MIM:617303 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G VPS45 vacuolar protein sorting 45 homolog IAGP HPO MIM:615285 NCBI chr 1:150,067,382...150,145,329
Ensembl chr 1:150,067,279...150,145,329 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:300299 ORPHA:86788 ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WDR1 WD repeat domain 1 IAGP HPO MIM:150550 NCBI chr 4:10,074,339...10,116,799
Ensembl chr 4:10,068,089...10,116,972 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916 		JBrowse link
G XDH xanthine dehydrogenase IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO MIM:308240 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility IAGP DNA:missense mutations:cds: p.R399Q (human) RGD PMID:22982660 RGD:151347428 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP HPO ORPHA:520 NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765 		JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 IAGP ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr 8:143,437,659...143,541,447
Ensembl chr 8:143,437,659...143,541,447 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 IAGP DNA:missense mutations:multiple (human) RGD PMID:22343920 RGD:151232292 NCBI chr  X:15,790,484...15,823,260
Ensembl chr  X:15,790,156...15,830,694 		JBrowse link
Neutropenia in presence of anti-neutropil antibodies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 IAGP HPO MIM:603909 ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO ORPHA:572 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:436159 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G DOCK11 dedicator of cytokinesis 11 IAGP HPO MIM:301109 NCBI chr  X:118,495,815...118,686,147
Ensembl chr  X:118,495,815...118,686,163 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO MIM:601859 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO MIM:601859 ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP DNA:SNP:cds:p.R131H RGD PMID:11295474 RGD:11040988 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:464370 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G ICOS inducible T cell costimulator IAGP HPO MIM:607594 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP HPO MIM:619802 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G PNP purine nucleoside phosphorylase IAGP HPO MIM:613179 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094 		JBrowse link
G RAG1 recombination activating 1 IAGP HPO ORPHA:231154 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RFX5 regulatory factor X5 IAGP HPO ORPHA:572 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP HPO ORPHA:572 NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869 		JBrowse link
G RFXAP regulatory factor X associated protein IAGP HPO ORPHA:572 NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 IAGP HPO MIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO MIM:615952 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP HPO ORPHA:391487 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		JBrowse link
G TPP2 tripeptidyl peptidase 2 IAGP HPO MIM:619220 NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958 		JBrowse link
Neutrophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC5 actin related protein 2/3 complex subunit 5 IAGP HPO MIM:620565 NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G CSF3R colony stimulating factor 3 receptor IAGP HPO MIM:162830 NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP HPO MIM:612852 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP HPO MIM:614204 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382 		JBrowse link
G IRF8 interferon regulatory factor 8 IAGP HPO MIM:226990 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606 		JBrowse link
G ITGB2 integrin subunit beta 2 susceptibility IAGP DNA:polymorphisms:multiple RGD PMID:20549317 RGD:6482224 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO MIM:249100 ORPHA:3243 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MVK mevalonate kinase IAGP HPO MIM:260920 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP HPO MIM:617099 NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,716,529 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO MIM:619281 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP HPO ORPHA:3243 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316 		JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO MIM:608203 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594 		JBrowse link
G RELB RELB proto-oncogene, NF-kB subunit IAGP HPO MIM:617585 NCBI chr19:45,001,464...45,038,192
Ensembl chr19:45,001,461...45,038,192 		JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO MIM:266265 ORPHA:99843 NCBI chr11:45,804,079...45,813,016
Ensembl chr11:45,804,072...45,813,016 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO ORPHA:1930 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:98849 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TICAM1 TIR domain containing adaptor molecule 1 IAGP HPO ORPHA:1930 NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712 		JBrowse link
G TLR3 toll like receptor 3 IAGP HPO ORPHA:1930 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073 		JBrowse link
G TRAF3 TNF receptor associated factor 3 IAGP HPO ORPHA:1930 NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500 		JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator IAGP HPO ORPHA:1930 NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982 		JBrowse link
G ZNFX1 zinc finger NFX1-type containing 1 IAGP HPO MIM:619644 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426 		JBrowse link
Neutrophilia in presence of infection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B IAGP ClinVar Annotator: match by term: Neutrophilia in presence of infection ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ClinVar Annotator: match by term: Neutrophilia in presence of infection ClinVar PMID:25741868 PMID:28492532 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Neutrophilia in presence of infection ClinVar PMID:25741868 PMID:28492532 NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384 		JBrowse link
Transient neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP HPO MIM:617107 ORPHA:500095 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 IAGP HPO MIM:607676 NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP HPO MIM:619707 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of blood and blood-forming tissues 5971
        Abnormal leukocyte morphology 3072
          Abnormal leukocyte count 574
            Abnormal granulocyte count 311
              Abnormal basophil count + 5
              Abnormal eosinophil count + 68
              Abnormal neutrophil count + 266
              Granulocytopenia + 9
              Granulocytosis 0
Path 2
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the immune system 10707
        Abnormal immune system morphology 3100
          Abnormal cellular immune system morphology 3072
            Abnormal leukocyte morphology 3072
              Abnormal myeloid leukocyte morphology 445
                Abnormal granulocyte morphology 416
                  Abnormal granulocyte count 311
                    Abnormal basophil count + 5
                    Abnormal eosinophil count + 68
                    Abnormal neutrophil count + 266
                    Granulocytopenia + 9
                    Granulocytosis 0
paths to the root