Abnormal myeloid leukocyte morphology - Ontology Report

DNA:SNPs, haplotypes: :p.D312N, p.K751Q

RGD

PMID:21394217

RGD:11252209

NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918

solute carrier family 37 member 4

ORPHA:79259

NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906

Abnormal basophil morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675

BCR

BCR activator of RhoGEF and GTPase

NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037

RUNX family transcription factor 1

NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667

Abnormal eosinophil count

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ANKRD27

ankyrin repeat domain 27

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

Abnormal eosinophil morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CAPN14

calpain 14

DNA:snps:multiple

RGD

PMID:25017104

RGD:11100049

NCBI chr 2:31,173,056...31,233,957
Ensembl chr 2:31,173,056...31,233,858

GPR35

G protein-coupled receptor 35

NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159

MST1

macrophage stimulating 1

NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501

semaphorin 4D

NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130

TCF4

transcription factor 4

NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787

toll like receptor 2

RGD

NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260

WASP actin nucleation promoting factor

ORPHA:906

NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431

WIPF1

WAS/WASL interacting protein family member 1

ORPHA:906

NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916

Abnormal granulocyte morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABHD5

abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

ORPHA:98907

NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675

BCR

BCR activator of RhoGEF and GTPase

NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037

NLRP3

NLR family pyrin domain containing 3

ORPHA:1451

NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108

PON1

paraoxonase 1

susceptibility

DNA:missense mutations:cds:p.L55M, p.Q192R

RGD

PMID:19967651

RGD:11552576

NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532

RUNX family transcription factor 1

NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667

Abnormal macrophage morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

SAMD9L

sterile alpha motif domain containing 9 like

ORPHA:2585

NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385

sarcoglycan gamma

NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162

Abnormal mast cell morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ASXL transcriptional regulator 1

ORPHA:98849 ORPHA:98850

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

Cbl proto-oncogene

NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926

CYP26C1

cytochrome P450 family 26 subfamily C member 1

ORPHA:398189

NCBI chr10:93,060,798...93,069,540
Ensembl chr10:93,060,798...93,069,540

KIT proto-oncogene, receptor tyrosine kinase

NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783

RUNX family transcription factor 1

NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667

serine and arginine rich splicing factor 2

ORPHA:98849 ORPHA:98850

NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333

tet methylcytosine dioxygenase 2

ORPHA:98849 ORPHA:98850

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

Abnormal neutrophil count

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CCAAT enhancer binding protein epsilon

NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256

DKC1

dyskerin pseudouridine synthase 1

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

DPYD

dihydropyrimidine dehydrogenase

treatment

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

ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

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

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

treatment

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

GATA2

GATA binding protein 2

ORPHA:228423

NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201

Abnormal neutrophil morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CXCR4

C-X-C motif chemokine receptor 4

ORPHA:51636

NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177

RPS14

ribosomal protein S14

ORPHA:86841

NCBI chr 5:150,442,635...150,449,739
Ensembl chr 5:150,442,635...150,449,739

Abnormality of neutrophil physiology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

lysosomal trafficking regulator

ORPHA:167

NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724

Rac family small GTPase 2

ORPHA:183707

NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594

Abnormality of neutrophils

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

adenylate kinase 2

NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996

CDCA7

cell division cycle associated 7

NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997

CTC1

CST telomere replication complex component 1

NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058

CYBA

cytochrome b-245 alpha chain

NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083

CYBB

cytochrome b-245 beta chain

NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461

CYBC1

cytochrome b-245 chaperone 1

NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829

DKC1

dyskerin pseudouridine synthase 1

NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689

DNMT3B

DNA methyltransferase 3 beta

NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359

HELLS

helicase, lymphoid specific

NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905

HLA-B

major histocompatibility complex, class I, B

ORPHA:36426

NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067

IKZF1

IKAROS family zinc finger 1

ORPHA:36426

NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101

lamin B receptor

NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925

DNA ligase 4

NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368

MYD88

MYD88 innate immune signal transduction adaptor

ORPHA:33226

NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024

NCF1

neutrophil cytosolic factor 1

NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315

NCF2

neutrophil cytosolic factor 2

NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905

NCF4

neutrophil cytosolic factor 4

NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017

NHP2

NHP2 ribonucleoprotein

NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894

NLRP3

NLR family pyrin domain containing 3

ORPHA:1451

NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108

NOP10

NOP10 ribonucleoprotein

NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180

nucleophosmin 1

NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810

NSUN2

NOP2/Sun RNA methyltransferase 2

ORPHA:235

NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291

PARN

poly(A)-specific ribonuclease

NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728

RTEL1

regulator of telomere elongation helicase 1

NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253

SAMD9L

sterile alpha motif domain containing 9 like

ORPHA:2585

NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385

tafazzin, phospholipid-lysophospholipid transacylase

ORPHA:111

NCBI chr X:154,411,539...154,421,726
Ensembl chr X:154,411,524...154,421,726

TERC

telomerase RNA component

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

TERT

telomerase reverse transcriptase

NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068

TINF2

TERF1 interacting nuclear factor 2

NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663

TYMS

thymidylate synthetase

NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578

UHRF1

ubiquitin like with PHD and ring finger domains 1

NCBI chr19:4,903,080...4,962,154
Ensembl chr19:4,903,080...4,962,154

USB1

U6 snRNA biogenesis phosphodiesterase 1

NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618

WRAP53

WD repeat containing antisense to TP53

NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502

ZBTB24

zinc finger and BTB domain containing 24

NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239

Absent neutrophil lactoferrin

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CCAAT enhancer binding protein epsilon

NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256

Absent neutrophil specific granules

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CCAAT enhancer binding protein epsilon

NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256

SMARCD2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2

MIM:617475

NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065

Agranulocytosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

NQO2

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

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

toll like receptor 8

NCBI chr X:12,906,620...12,923,169
Ensembl chr X:12,906,620...12,923,169

Bone-marrow foam cells

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LIPA

lipase A, lysosomal acid type

MIM:278000 ORPHA:75233

NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557

neuraminidase 1

NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905

NPC1

NPC intracellular cholesterol transporter 1

MIM:257220

NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506

NPC2

NPC intracellular cholesterol transporter 2

MIM:607625

NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177

SMPD1

sphingomyelin phosphodiesterase 1

MIM:257200 MIM:607616

NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998

Chronic neutropenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CDC40

cell division cycle 40

MIM:619302

NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275

CXCR2

C-X-C motif chemokine receptor 2

MIM:619407

NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251

DnaJ heat shock protein family (Hsp40) member C21

NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964

elongation factor like GTPase 1

NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773

FIBP

FGF1 intracellular binding protein

ORPHA:500095

NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531

LRBA

LPS responsive beige-like anchor protein

MIM:614700

NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727

PPIL1

peptidylprolyl isomerase like 1

MIM:619301

NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803

SBDS ribosome maturation factor

NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693

solute carrier family 37 member 4

ORPHA:79259

NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906

Congenital agranulocytosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

adenylate kinase 2

NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996

elastase, neutrophil expressed

MIM:202700

NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247

Cutaneous mastocytosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Cutaneous mastocytosis

MIM:154800 ORPHA:280785 ORPHA:280794

PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More...

NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783

Cyclic neutropenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

elastase, neutrophil expressed

ClinVar Annotator: match by term: Neutropenia cyclic

MIM:162800 ORPHA:2686

NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247

solute carrier family 37 member 4

MIM:232240

NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906

tafazzin, phospholipid-lysophospholipid transacylase

MIM:302060

NCBI chr X:154,411,539...154,421,726
Ensembl chr X:154,411,524...154,421,726

Decreased basophil count

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BACH2

BTB domain and CNC homolog 2

MIM:618394

NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843

Decreased eosinophil count

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATRX

ATRX chromatin remodeler

NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233

BRAF

B-Raf proto-oncogene, serine/threonine kinase

NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929

CARD10

caspase recruitment domain family member 10

MIM:619632

NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542

cadherin related 23

NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947

elastase, neutrophil expressed

ORPHA:2686

NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247

NR3C1

nuclear receptor subfamily 3 group C member 1

NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512

tumor protein p53

NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546

USP48

ubiquitin specific peptidase 48

NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606

USP8

ubiquitin specific peptidase 8

NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421

Diminished neutrophil myeloperoxidase activity

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

myeloperoxidase

NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935

Eosinophil nuclear hypersegmentation

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

EPX

eosinophil peroxidase

MIM:261500

NCBI chr17:58,192,726...58,205,174
Ensembl chr17:58,192,726...58,205,174

Eosinophilia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADA

adenosine deaminase

MIM:102700 ORPHA:39041

NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252

ASXL transcriptional regulator 1

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

BCL11B

BCL11 transcription factor B

MIM:617237 MIM:618092

NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197

butyrophilin like 2

NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181

calpain 3

NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949

CARD11

caspase recruitment domain family member 11

MIM:617638

NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228

CASP10

caspase 10

MIM:603909 ORPHA:3261

NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428

CD247

CD247 molecule

MIM:610163 ORPHA:169160

NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640

CD3D

CD3 delta subunit of T-cell receptor complex

ORPHA:169160

NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705

CD3E

CD3 epsilon subunit of T-cell receptor complex

ORPHA:169160

NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175

corneodesmosin

NCBI chr 6:31,115,087...31,120,446
Ensembl chr 6:31,115,087...31,120,446

CHD7

chromodomain helicase DNA binding protein 7

ORPHA:39041

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

ClpB family mitochondrial disaggregase

NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680

DCLRE1C

DNA cross-link repair 1C

MIM:602450 MIM:603554 ORPHA:39041

NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432

DOCK8

dedicator of cytokinesis 8

PMID:22534316 PMID:22476911

DNA:mutations: :
DNA:mutations:cds:

HPO
RGD

MIM:243700, RGD:40902960, RGD:40903056

NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259

elastase, neutrophil expressed

MIM:202700 ORPHA:486

NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247

EXTL3

exostosin like glycosyltransferase 3

MIM:617425

NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561

FAS

Fas cell surface death receptor

NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605

FASLG

Fas ligand

NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876

forkhead box P3

NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800

GFI1

growth factor independent 1 transcriptional repressor

NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925

HLA-DRB1

major histocompatibility complex, class II, DR beta 1

ORPHA:797

NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848

IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

MIM:308300 ORPHA:464

NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046

IL2RG

interleukin 2 receptor subunit gamma

ORPHA:39041

NCBI chr X:71,107,404...71,111,577
Ensembl chr X:71,107,404...71,112,108

IL6ST

interleukin 6 cytokine family signal transducer

MIM:618523

NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022

IL7R

interleukin 7 receptor

ORPHA:169154 ORPHA:39041

NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603

interferon regulatory factor 8

NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606

Janus kinase 1

NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754

KIT proto-oncogene, receptor tyrosine kinase

NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783

DNA ligase 4

NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368

NLRP3

NLR family pyrin domain containing 3

MIM:607115

NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108

PDGFRA

platelet derived growth factor receptor alpha

MIM:607685

NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245

PDGFRB

platelet derived growth factor receptor beta

MIM:131440

NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872

PGM3

phosphoglucomutase 3

MIM:615816 ORPHA:443811

NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980

RAG1

recombination activating 1

MIM:603554 ORPHA:331206 ORPHA:39041

NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156

RAG2

recombination activating 2

MIM:603554 ORPHA:331206 ORPHA:39041

NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279

RBM8A

RNA binding motif protein 8A

MIM:274000

NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678

RMRP

RNA component of mitochondrial RNA processing endoribonuclease

ORPHA:39041

NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017

RNU4ATAC

RNA, U4atac small nuclear

MIM:616651 ORPHA:353298

NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007

SLC27A4

solute carrier family 27 member 4

ORPHA:88621

NCBI chr 9:128,340,527...128,361,470
Ensembl chr 9:128,340,527...128,361,470

SLC46A1

solute carrier family 46 member 1

ORPHA:90045

NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197

SREBF1

sterol regulatory element binding transcription factor 1

MIM:158310

NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002

SRP19

signal recognition particle 19

NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371

serine and arginine rich splicing factor 2

NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333

STAT3

signal transducer and activator of transcription 3

MIM:147060 MIM:615952 ORPHA:2314

NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568

STAT6

signal transducer and activator of transcription 6

MIM:620532

NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139

TBX21

T-box transcription factor 21

MIM:619630

NCBI chr17:47,733,236...47,746,122
Ensembl chr17:47,733,236...47,746,122

TBXA2R

thromboxane A2 receptor

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

TCIRG1

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895

tet methylcytosine dioxygenase 2

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

WASP actin nucleation promoting factor

MIM:301000

NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431

ZAP70

zeta chain of T cell receptor associated protein kinase 70

ORPHA:911

NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862

ZNF341

zinc finger protein 341

MIM:618282

NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269

Giant neutrophil granules

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

lysosomal trafficking regulator

MIM:214500

NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724

Granulocytopenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

RPS28

ribosomal protein S28

MIM:606164

NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340

SF3B1

splicing factor 3b subunit 1

NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079

tafazzin, phospholipid-lysophospholipid transacylase

MIM:302060

NCBI chr X:154,411,539...154,421,726
Ensembl chr X:154,411,524...154,421,726

tet methylcytosine dioxygenase 2

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

unc-13 homolog D

NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785

Granulomatosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CTLA4

cytotoxic T-lymphocyte associated protein 4

NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965

CYBA

cytochrome b-245 alpha chain

MIM:233690

NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083

CYBB

cytochrome b-245 beta chain

MIM:306400

NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461

HLA-B

major histocompatibility complex, class I, B

susceptibility

DNA:polymorphisms:cds:HLA-B-7, HLA-B-8

RGD

PMID:23808178

RGD:7364872

NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067

HLA-DPA1

major histocompatibility complex, class II, DP alpha 1

NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775

HLA-DPB1

major histocompatibility complex, class II, DP beta 1

NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696

NCF1

neutrophil cytosolic factor 1

MIM:233700

NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315

NCF2

neutrophil cytosolic factor 2

MIM:233710

NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905

proteinase 3

NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175

PTPN22

protein tyrosine phosphatase non-receptor type 22

NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753

Hemophagocytosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

calreticulin

NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489

CARD11

caspase recruitment domain family member 11

ClinVar Annotator: match by term: Hemophagocytosis

NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228

CD27 molecule

NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718

DNASE2

deoxyribonuclease 2, lysosomal

MIM:619858

NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595

HAVCR2

hepatitis A virus cellular receptor 2

MIM:618398 ORPHA:86884

NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869

interferon gamma

NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740

ITK

IL2 inducible T cell kinase

MIM:613011

NCBI chr 5:157,180,840...157,255,185
Ensembl chr 5:157,142,933...157,255,185

Janus kinase 2

NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948

lysosomal trafficking regulator

MIM:214500 ORPHA:167

NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724

MPL

MPL proto-oncogene, thrombopoietin receptor

MIM:254450

NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980

perforin 1

NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759

RAB27A

RAB27A, member RAS oncogene family

MIM:607624 ORPHA:79477

NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113

SH2B3

SH2B adaptor protein 3

MIM:254450

NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623

SH2D1A

SH2 domain containing 1A

MIM:308240

NCBI chr X:124,346,563...124,373,160
Ensembl chr X:124,227,868...124,373,197

SLC7A7

solute carrier family 7 member 7

MIM:222700 ORPHA:470

NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820

syntaxin 11

NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939

STXBP2

syntaxin binding protein 2

MIM:613101 ORPHA:540

NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873

toll like receptor 8

NCBI chr X:12,906,620...12,923,169
Ensembl chr X:12,906,620...12,923,169

unc-13 homolog D

NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785

XIAP

X-linked inhibitor of apoptosis

MIM:300635 MIM:308240

NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972

ZNFX1

zinc finger NFX1-type containing 1

MIM:619644

NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426

Hepatic hemophagocytosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cbl proto-oncogene B

NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552

Histiocytosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

GPR35

G protein-coupled receptor 35

NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159

IFNGR1

interferon gamma receptor 1

MIM:209950

NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449

MST1

macrophage stimulating 1

NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501

semaphorin 4D

NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130

SLC29A3

solute carrier family 29 member 3

MIM:602782 ORPHA:168569

NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423

TCF4

transcription factor 4

NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787

Hypereosinophilia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CARD9

caspase recruitment domain family member 9

MIM:212050

NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681

DOCK8

dedicator of cytokinesis 8

DNA:mutations: :

RGD

PMID:25724123

RGD:40886274

NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259

EXTL3

exostosin like glycosyltransferase 3

ORPHA:508533

NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561

importin 8

NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869

NLRP1

NLR family pyrin domain containing 1

MIM:617388

NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424

SPINK5

serine peptidase inhibitor Kazal type 5

MIM:256500

NCBI chr 5:148,063,980...148,137,382
Ensembl chr 5:148,025,683...148,137,382

TRAC

T cell receptor alpha constant

MIM:615387

NCBI chr14:22,547,506...22,552,132
Ensembl chr14:22,547,506...22,552,156

Hypersegmentation of neutrophil nuclei

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AMN

amnion associated transmembrane protein

ORPHA:35858

NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596

cubilin

NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811

FTCD

formimidoyltransferase cyclodeaminase

MIM:229100

NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579

MTHFD1

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

MIM:617780

NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457

sideroflexin 4

NCBI chr10:119,140,767...119,165,714
Ensembl chr10:119,140,767...119,165,714

SLC19A1

solute carrier family 19 member 1

MIM:601775

NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365

Hyposegmentation of neutrophil nuclei

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CCAAT enhancer binding protein epsilon

MIM:245480 MIM:260570

NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256

LBR

lamin B receptor

MIM:169400 MIM:618019, RGD:11062007

DNA:missense mutation, splice-site mutation:exon, intron:p.P119L, IVS11-9A>G
ClinVar Annotator: match by term: Pelger-Huet Anomaly

ClinVar
HPO
RGD

PMID:12118250 PMID:14617022 PMID:18382993 PMID:21327084 PMID:23824842 More...

NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925

NBAS

NBAS subunit of NRZ tethering complex

MIM:614800

NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340

SF3B1

splicing factor 3b subunit 1

NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079

tet methylcytosine dioxygenase 2

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

TMEM147

transmembrane protein 147

MIM:620075

NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526

Impaired neutrophil bactericidal activity

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CCAAT enhancer binding protein epsilon

NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256

GPI

glucose-6-phosphate isomerase

MIM:613470

NCBI chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413

lysosomal trafficking regulator

MIM:214500

NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724

Impaired neutrophil chemotaxis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CCAAT enhancer binding protein epsilon

MIM:245480 MIM:260570

NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256

DnaJ heat shock protein family (Hsp40) member C21

NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964

elongation factor like GTPase 1

NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773

LCP2

lymphocyte cytosolic protein 2

MIM:619374

NCBI chr 5:170,246,233...170,297,777
Ensembl chr 5:170,246,233...170,297,815

phosphomannomutase 2

NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534

Rac family small GTPase 2

MIM:608203 MIM:618986

NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594

SBDS ribosome maturation factor

NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693

Impaired oxidative burst

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CYBA

cytochrome b-245 alpha chain

MIM:233690

NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083

CYBB

cytochrome b-245 beta chain

DNA:mutations:promoter:

HPO
RGD

PMID:11122248

MIM:306400, RGD:11040566

NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461

CYBC1

cytochrome b-245 chaperone 1

MIM:618935

NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829

interferon regulatory factor 8

NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606

NCF1

neutrophil cytosolic factor 1

MIM:233700

NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315

NCF2

neutrophil cytosolic factor 2

MIM:233710

NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905

Rac family small GTPase 2

MIM:608203

NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594

SPPL2A

signal peptide peptidase like 2A

MIM:619549

NCBI chr15:50,702,266...50,765,706
Ensembl chr15:50,702,266...50,765,948

Increased basophil count

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ASXL transcriptional regulator 1

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

KIT proto-oncogene, receptor tyrosine kinase

NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783

serine and arginine rich splicing factor 2

NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333

tet methylcytosine dioxygenase 2

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

Increased neutrophil mitochondria

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CCAAT enhancer binding protein epsilon

NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256

Increased neutrophil ribosomes

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CCAAT enhancer binding protein epsilon

NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256

Increased proportion of CD25+ mast cells

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ASXL transcriptional regulator 1

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

Cbl proto-oncogene

NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926

lysosomal trafficking regulator

ORPHA:167

NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724

RUNX family transcription factor 1

NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667

serine and arginine rich splicing factor 2

NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333

tet methylcytosine dioxygenase 2

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

Infection associated neutropenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ClpB family mitochondrial disaggregase

ORPHA:445038

NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680

Leukocyte inclusion bodies

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

myosin heavy chain 9

NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010

Lipogranulomatosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ASAH1

N-acylsphingosine amidohydrolase 1

MIM:228000

NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998

Mastocytosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

IL13

interleukin 13

DNA:SNP:promoter:-1112C>T (rs1800925)

RGD

PMID:19178408

RGD:8549523

NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Mastocytosis

PMID:7529964 PMID:8589724 PMID:10554798 PMID:11380399 PMID:15790786 More...

NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783

Monocytopenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CARD11

caspase recruitment domain family member 11

MIM:615206

NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228

GATA2

GATA binding protein 2

MIM:614172

NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201

interferon regulatory factor 8

NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980

Rac family small GTPase 2

MIM:618986

NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594

WASP actin nucleation promoting factor

MIM:300299 ORPHA:86788

NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431

Monocytosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ARPC5

actin related protein 2/3 complex subunit 5

MIM:620565

NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783

ASXL transcriptional regulator 1

associated with Leukemia, Myelomonocytic, Chronic; DNA:mutations:exon:

RGD

PMID:20880116

RGD:11038767

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

ClpB family mitochondrial disaggregase

NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680

DEAD-box helicase 41

NCBI chr 5:177,511,577...177,516,961
Ensembl chr 5:177,511,577...177,516,961

elastase, neutrophil expressed

MIM:202700 ORPHA:486

NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247

G6PC3

glucose-6-phosphatase catalytic subunit 3

MIM:612541

NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151

GFI1

growth factor independent 1 transcriptional repressor

MIM:613107 ORPHA:486

NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925

IKBKB

inhibitor of nuclear factor kappa B kinase subunit beta

MIM:615592

NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460

KRAS

KRAS proto-oncogene, GTPase

NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936

NRAS

NRAS proto-oncogene, GTPase

NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771

PIK3CD

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

MIM:619281

NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114

PTGR1

prostaglandin reductase 1

DNA:SNP:intron:g.114348617G>A (rs2273788)

RGD

PMID:23314186

RGD:401959216

NCBI chr 9:111,549,722...111,599,647
Ensembl chr 9:111,549,722...111,599,893

PTPN11

protein tyrosine phosphatase non-receptor type 11

DNA:missense mutations:cds:multiple

RGD

PMID:12717436

RGD:11066398

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

SEC61A1

SEC61 translocon subunit alpha 1

MIM:620674

NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705

SRP19

signal recognition particle 19

NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371

SRP68

signal recognition particle 68

MIM:620534

NCBI chr17:76,038,785...76,072,517
Ensembl chr17:76,038,775...76,072,517

TCIRG1

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895

ZNFX1

zinc finger NFX1-type containing 1

MIM:619644

NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426

Neutropenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AARS1

alanyl-tRNA synthetase 1

NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707

ABCD4

ATP binding cassette subfamily D member 4

MIM:614857

NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055

ACP5

acid phosphatase 5, tartrate resistant

MIM:607944

NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993

ADA2

adenosine deaminase 2

NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235

AGA

aspartylglucosaminidase

MIM:208400

NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437

AMN

amnion associated transmembrane protein

ORPHA:35858

NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596

ANAPC1

anaphase promoting complex subunit 1

ORPHA:221008

NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690

ANKRD11

ankyrin repeat domain containing 11

ClinVar Annotator: match by term: Neutropenia

NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561

AP3B1

adaptor related protein complex 3 subunit beta 1

MIM:608233

NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762

AP3D1

adaptor related protein complex 3 subunit delta 1

MIM:617050

NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468

ASXL transcriptional regulator 1

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

ATP6AP1

ATPase H+ transporting accessory protein 1

ClinVar Annotator: match by term: Neutropenia

NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516

ATRX

ATRX chromatin remodeler

ORPHA:231401

NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233

BCL6 corepressor

NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329

BLNK

B cell linker

MIM:613502 ORPHA:33110

NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587

BTK

Bruton tyrosine kinase

MIM:300755 ORPHA:47

NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796

C16orf92

chromosome 16 open reading frame 92

ClinVar Annotator: match by term: Neutropenia

NCBI chr16:30,023,198...30,027,736
Ensembl chr16:30,023,198...30,027,736

C1GALT1C1

C1GALT1 specific chaperone 1

MIM:301110

NCBI chr X:120,625,674...120,630,054
Ensembl chr X:120,625,674...120,630,054

CAMK2B

calcium/calmodulin dependent protein kinase II beta

MIM:617799

NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577

CARS1

cysteinyl-tRNA synthetase 1

NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613

Cbl proto-oncogene

NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926

CCNQ

cyclin Q

ClinVar Annotator: match by term: Neutropenia

NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045

CD40 molecule

NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863

CD40 ligand

NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390

CD79A

CD79a molecule

MIM:613501 ORPHA:33110

NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372

CD79b molecule

NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336

CFB

complement factor B

ClinVar Annotator: match by term: Neutropenia

NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086

CHD1L

chromodomain helicase DNA binding protein 1 like

ClinVar Annotator: match by term: Neutropenia

NCBI chr 1:147,172,747...147,295,762
Ensembl chr 1:147,242,654...147,295,765

CIITA

class II major histocompatibility complex transactivator

NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021

ClpB family mitochondrial disaggregase

ClinVar Annotator: match by term: Neutropenia

MIM:616271 MIM:619835 ORPHA:445038 ORPHA:486

PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More...

NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680

COG4

component of oligomeric golgi complex 4

MIM:618150

NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560

CRELD1

cysteine rich with EGF like domains 1

MIM:620771

NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413

CSF3R

colony stimulating factor 3 receptor

MIM:617014

NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278

cubilin

NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811

CXCR4

C-X-C motif chemokine receptor 4

MIM:193670 ORPHA:51636

NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177

DIAPH1

diaphanous related formin 1

ORPHA:494444

NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055

DnaJ heat shock protein family (Hsp40) member C21

MIM:260400 MIM:617052 ORPHA:811

NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964

elongation factor like GTPase 1

MIM:617941 ORPHA:811

NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773

EIF2AK3

eukaryotic translation initiation factor 2 alpha kinase 3

ORPHA:1667

NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518

elastase, neutrophil expressed

ClinVar Annotator: match by term: Neutropenia

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

EPG5

ectopic P-granules 5 autophagy tethering factor

MIM:242840

NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329

EPHX1

epoxide hydrolase 1

ClinVar Annotator: match by term: Neutropenia

NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

treatment

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

ERCC3

ERCC excision repair 3, TFIIH core complex helicase subunit

NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166

ERCC6

ERCC excision repair 6, chromatin remodeling factor

treatment

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

ETV6

ETS variant transcription factor 6

MIM:616216

NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377

FANCA

FA complementation group A

MIM:227650

NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977

FANCC

FA complementation group C

MIM:227645

NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796

FANCD2

FA complementation group D2

MIM:227646

NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932

FANCE

FA complementation group E

MIM:600901

NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104

FANCG

FA complementation group G

MIM:614082

NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004

FANCI

FA complementation group I

MIM:609053

NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261

FBXL4

F-box and leucine rich repeat protein 4

MIM:615471

NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006

FBXW7

F-box and WD repeat domain containing 7

MIM:620012

NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092

ferredoxin 2

NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015

FIP1L1

factor interacting with PAPOLA and CPSF1

NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382

FMO3

flavin containing dimethylaniline monoxygenase 3

MIM:602079

NCBI chr 1:171,090,905...171,117,819
Ensembl chr 1:171,090,901...171,117,819

FNIP1

folliculin interacting protein 1

MIM:619705

NCBI chr 5:131,641,714...131,797,017
Ensembl chr 5:131,641,714...131,797,017

FOXP3

forkhead box P3

MIM:304790 ORPHA:37042

NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800

fucosyltransferase 8

NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121

G6PC3

glucose-6-phosphatase catalytic subunit 3

MIM:612541

NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151

GATA1

GATA binding protein 1

MIM:300835 ORPHA:124

NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311

GATA2

GATA binding protein 2

MIM:614172

NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201

GFI1

growth factor independent 1 transcriptional repressor

MIM:607847 MIM:613107 ORPHA:486

NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925

GINS1

GINS complex subunit 1

MIM:617827

NCBI chr20:25,407,673...25,448,563
Ensembl chr20:25,391,008...25,452,700

GSS

glutathione synthetase

MIM:266130

NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027

GTF2E2

general transcription factor IIE subunit 2

NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236

GTF2H5

general transcription factor IIH subunit 5

MIM:616395 ORPHA:33364

NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344

HAX1

HCLS1 associated protein X-1

ClinVar Annotator: match by term: Neutropenia

PMID:28492532 PMID:32581362

MIM:610738

NCBI chr 1:154,272,629...154,275,875
Ensembl chr 1:154,272,355...154,275,875

HEATR3

HEAT repeat containing 3

NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272

HSCB

HscB mitochondrial iron-sulfur cluster cochaperone

MIM:619523

NCBI chr22:28,742,032...28,757,510
Ensembl chr22:28,742,039...28,757,515

HTRA2

HtrA serine peptidase 2

MIM:617248

NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350

interferon gamma

NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740

IGHM

immunoglobulin heavy constant mu

MIM:601495 ORPHA:33110

NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218

IGLL1

immunoglobulin lambda like polypeptide 1

NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302

IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

MIM:301081

NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046

IL6ST

interleukin 6 cytokine family signal transducer

MIM:619752

NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022

IL7R

interleukin 7 receptor

ORPHA:169154

NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603

IRAK4

interleukin 1 receptor associated kinase 4

ORPHA:70592

NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307

IRF2BP2

interferon regulatory factor 2 binding protein 2

NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178

jagunal homolog 1

NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349

KIF11

kinesin family member 11

ClinVar Annotator: match by term: Neutropenia

NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395

KRAS

KRAS proto-oncogene, GTPase

NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936

LAMTOR2

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

MIM:610798 ORPHA:90023

NCBI chr 1:156,054,782...156,058,506
Ensembl chr 1:156,054,782...156,058,506

lamin B receptor

NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925

LIMS2

LIM zinc finger domain containing 2

ClinVar Annotator: match by term: Neutropenia

NCBI chr 2:127,638,426...127,681,786
Ensembl chr 2:127,638,381...127,681,786

LMBRD1

LMBR1 domain containing 1

MIM:277380 ORPHA:79284

NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236

LOC126861258

MED14-independent group 3 enhancer GRCh37_chr11:72012242-72013441

ClinVar Annotator: match by term: Neutropenia

PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More...

NCBI chr11:72,301,198...72,302,397

LOC126863334

MED14-independent group 3 enhancer GRCh37_chrX:140991796-140992995

ClinVar Annotator: match by term: Neutropenia

NCBI chr X:141,904,010...141,905,209

LRRC8A

leucine rich repeat containing 8 VRAC subunit A

NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039

lysosomal trafficking regulator

MIM:214500 ORPHA:167

NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724

MAD2L2

mitotic arrest deficient 2 like 2

MIM:617243

NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811

MAGEC1

MAGE family member C1

ClinVar Annotator: match by term: Neutropenia

NCBI chr X:141,903,894...141,909,374
Ensembl chr X:141,903,894...141,909,374

MDM4

MDM4 regulator of p53

MIM:618849

NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120

MECOM

MDS1 and EVI1 complex locus

MIM:616738

NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775

MMAA

metabolism of cobalamin associated A

MIM:251100

NCBI chr 4:145,619,385...145,660,033
Ensembl chr 4:145,599,042...145,660,033

MMAB

metabolism of cobalamin associated B

MIM:251110

NCBI chr12:109,553,715...109,573,504
Ensembl chr12:109,553,715...109,573,580

MMACHC

metabolism of cobalamin associated C

MIM:277400 ORPHA:79282

NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382

MMUT

methylmalonyl-CoA mutase

MIM:251000 ORPHA:289916 ORPHA:79312

NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253

MPLKIP

M-phase specific PLK1 interacting protein

NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622

moesin

NCBI chr X:65,588,377...65,741,931
Ensembl chr X:65,588,377...65,741,931

MTHFR

methylenetetrahydrofolate reductase

disease_progression
treatment

PMID:19923983 PMID:21644011

DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133)

RGD

RGD:10449398, RGD:10449407

NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455

MTR

5-methyltetrahydrofolate-homocysteine methyltransferase

MIM:250940

NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278

MTRR

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

ORPHA:2169

NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025

MUC16

mucin 16, cell surface associated

ClinVar Annotator: match by term: Neutropenia

NCBI chr19:8,848,844...9,065,751
Ensembl chr19:8,848,844...9,010,390

MYSM1

Myb like, SWIRM and MPN domains 1

ORPHA:508542

NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090

NABP1

nucleic acid binding protein 1

NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097

NCAPG2

non-SMC condensin II complex subunit G2

MIM:618460

NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,631,169...158,704,804

NDUFA6

NADH:ubiquinone oxidoreductase subunit A6

MIM:618253

NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884

nucleophosmin 1

NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810

NRAS

NRAS proto-oncogene, GTPase

NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771

NUMA1

nuclear mitotic apparatus protein 1

NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693

PACS2

phosphofurin acidic cluster sorting protein 2

MIM:618067

NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147

PCCA

propionyl-CoA carboxylase subunit alpha

MIM:606054

NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437

PCCB

propionyl-CoA carboxylase subunit beta

MIM:606054

NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896

PGM3

phosphoglucomutase 3

MIM:615816 ORPHA:443811

NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

MIM:615214 ORPHA:33110

NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821

PKP3

plakophilin 3

ClinVar Annotator: match by term: Neutropenia

NCBI chr11:392,596...404,908
Ensembl chr11:392,614...404,908

PML

PML nuclear body scaffold

NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827

POLD1

DNA polymerase delta 1, catalytic subunit

treatment

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

POLR3C

RNA polymerase III subunit C

ClinVar Annotator: match by term: Neutropenia

NCBI chr 1:145,824,200...145,844,402
Ensembl chr 1:145,824,053...145,844,402

peroxiredoxin 1

NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732

perforin 1

NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319

RAB27A

RAB27A, member RAS oncogene family

ORPHA:79477

NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113

Rac family small GTPase 2

MIM:618986

NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594

RARA

retinoic acid receptor alpha

NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643

RecQ like helicase 4

NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845

regulatory factor X5

NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326

RFXANK

regulatory factor X associated ankyrin containing protein

NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869

RFXAP

regulatory factor X associated protein

NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104

RMRP

RNA component of mitochondrial RNA processing endoribonuclease

MIM:250250 ORPHA:175

NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017

RNF113A

ring finger protein 113A

NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733

RNF128

ring finger protein 128

ClinVar Annotator: match by term: Neutropenia

PMID:25741868

NCBI chr X:106,693,838...106,797,016
Ensembl chr X:106,693,794...106,797,016

RPL11

ribosomal protein L11

MIM:612562 ORPHA:124

NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835

RPL15

ribosomal protein L15

NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374

RPL18

ribosomal protein L18

MIM:618310 ORPHA:124

NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184

RPL26

ribosomal protein L26

MIM:614900 ORPHA:124

NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213

RPL27

ribosomal protein L27

NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959

RPL31

ribosomal protein L31

NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032

RPL35

ribosomal protein L35

NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981

RPL35A

ribosomal protein L35a

NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610

ribosomal protein L5

NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924

ribosomal protein L8

NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587

ribosomal protein L9

NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931

RPS10

ribosomal protein S10

NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069

RPS15A

ribosomal protein S15a

NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383

RPS17

ribosomal protein S17

MIM:612527 ORPHA:124

NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459

RPS19

ribosomal protein S19

MIM:105650 ORPHA:124

NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925

RPS20

ribosomal protein S20

NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510

RPS24

ribosomal protein S24

NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813

RPS26

ribosomal protein S26

NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697

RPS27

ribosomal protein S27

NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155

RPS28

ribosomal protein S28

NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340

RPS29

ribosomal protein S29

NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164

ribosomal protein S7

NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920

RUNX family transcription factor 1

NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667

SAMD9

sterile alpha motif domain containing 9

MIM:619041

NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023

SAMD9L

sterile alpha motif domain containing 9 like

MIM:159550

NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385

SBDS ribosome maturation factor

MIM:260400 ORPHA:811 ORPHA:88

NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693

SEC61A1

SEC61 translocon subunit alpha 1

MIM:617056 MIM:620674

NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705

SF3B1

splicing factor 3b subunit 1

NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079

SH2D1A

SH2 domain containing 1A

MIM:308240

NCBI chr X:124,346,563...124,373,160
Ensembl chr X:124,227,868...124,373,197

SLC30A7

solute carrier family 30 member 7

MIM:620501

NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,981,757

SLC34A1

solute carrier family 34 member 1

ClinVar Annotator: match by term: Neutropenia

NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848

SLC35A1

solute carrier family 35 member A1

MIM:603585 ORPHA:238459

NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336

solute carrier family 37 member 4

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

SLC39A7

solute carrier family 39 member 7

NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439

SLC46A1

solute carrier family 46 member 1

MIM:229050

NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197

SMARCAL1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

MIM:242900 ORPHA:1830

NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053

SMARCD2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2

MIM:617475

NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065

SOD2

superoxide dismutase 2

susceptibility

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

Spi-1 proto-oncogene

NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369

SRP19

signal recognition particle 19

NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371

SRP54

signal recognition particle 54

MIM:260400 MIM:618752

NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686

SRP68

signal recognition particle 68

MIM:620534

NCBI chr17:76,038,785...76,072,517
Ensembl chr17:76,038,775...76,072,517

serine and arginine rich splicing factor 2

NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333

STAT3

signal transducer and activator of transcription 3

NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568

STAT4

signal transducer and activator of transcription 4

MIM:620443

NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435

STAT5B

signal transducer and activator of transcription 5B

NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633

STK4

serine/threonine kinase 4

MIM:614868

NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,080,021

syntaxin 11

NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939

STXBP2

syntaxin binding protein 2

ORPHA:540

NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873

tafazzin, phospholipid-lysophospholipid transacylase

MIM:302060

NCBI chr X:154,411,539...154,421,726
Ensembl chr X:154,411,524...154,421,726

TARS1

threonyl-tRNA synthetase 1

NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091

TBL1X/Y related 1

NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000

TCF3

transcription factor 3

NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615

TCIRG1

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895

transcobalamin 2

NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271

TDP2

tyrosyl-DNA phosphodiesterase 2

MIM:616949

NCBI chr 6:24,649,979...24,666,899
Ensembl chr 6:24,649,979...24,666,930

TERC

telomerase RNA component

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

TERT

telomerase reverse transcriptase

MIM:613989 ORPHA:88

NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068

tet methylcytosine dioxygenase 2

ORPHA:75564 ORPHA:98826 ORPHA:98850

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

TFR2

transferrin receptor 2

MIM:604250

NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779

transferrin receptor

NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153

thrombopoietin

NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968

TINF2

TERF1 interacting nuclear factor 2

MIM:268130 MIM:613990

NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663

TLE2

TLE family member 2, transcriptional corepressor

ClinVar Annotator: match by term: Neutropenia

NCBI chr19:2,997,644...3,047,635
Ensembl chr19:2,997,639...3,047,635

toll like receptor 8

NCBI chr X:12,906,620...12,923,169
Ensembl chr X:12,906,620...12,923,169

TMEM63A

transmembrane protein 63A

ClinVar Annotator: match by term: Neutropenia

NCBI chr 1:225,840,556...225,882,380
Ensembl chr 1:225,845,536...225,882,380

TONSL

tonsoku like, DNA repair protein

MIM:271510 ORPHA:93357

NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440

TRAC

T cell receptor alpha constant

MIM:615387

NCBI chr14:22,547,506...22,552,132
Ensembl chr14:22,547,506...22,552,156

TSR2

TSR2 ribosome maturation factor

NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032

UBE2A

ubiquitin conjugating enzyme E2 A

ORPHA:163956

NCBI chr X:119,574,563...119,584,423
Ensembl chr X:119,474,802...119,591,083

unc-13 homolog D

NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785

USB1

U6 snRNA biogenesis phosphodiesterase 1

MIM:604173

NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618

USP3

ubiquitin specific peptidase 3

ClinVar Annotator: match by term: Neutropenia

NCBI chr15:63,504,593...63,594,633
Ensembl chr15:63,504,511...63,594,640

VPS13B

vacuolar protein sorting 13 homolog B

ClinVar Annotator: match by term: Low neutrophil count
ClinVar Annotator: match by term: Neutropenia

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

VPS33A

VPS33A core subunit of CORVET and HOPS complexes

MIM:617303

NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502

VPS45

vacuolar protein sorting 45 homolog

MIM:615285

NCBI chr 1:150,067,382...150,145,329
Ensembl chr 1:150,067,279...150,145,329

WASP actin nucleation promoting factor

MIM:300299 ORPHA:86788 ORPHA:906

NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431

WD repeat domain 1

NCBI chr 4:10,074,339...10,116,799
Ensembl chr 4:10,068,089...10,116,972

WIPF1

WAS/WASL interacting protein family member 1

ORPHA:906

NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916

XDH

xanthine dehydrogenase

ClinVar Annotator: match by term: Neutropenia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742

XIAP

X-linked inhibitor of apoptosis

MIM:308240

NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972

XRCC1

X-ray repair cross complementing 1

susceptibility

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

ZBTB16

zinc finger and BTB domain containing 16

NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765

ZC3H3

zinc finger CCCH-type containing 3

ClinVar Annotator: match by term: Neutropenia

NCBI chr 8:143,437,659...143,541,447
Ensembl chr 8:143,437,659...143,541,447

ZRSR2

zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2

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

Neutropenia in presence of anti-neutropil antibodies

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CASP10

caspase 10

MIM:603909 ORPHA:3261

NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428

CIITA

class II major histocompatibility complex transactivator

NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021

CTLA4

cytotoxic T-lymphocyte associated protein 4

ORPHA:436159

NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965

DOCK11

dedicator of cytokinesis 11

MIM:301109

NCBI chr X:118,495,815...118,686,147
Ensembl chr X:118,495,815...118,686,163

FAS

Fas cell surface death receptor

NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605

FASLG

Fas ligand

NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876

FCGR2A

Fc gamma receptor IIa

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

FCGR3B

Fc gamma receptor IIIb

ORPHA:464370

NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963

forkhead box P3

NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800

ICOS

inducible T cell costimulator

MIM:607594

NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577

ITCH

itchy E3 ubiquitin protein ligase

ORPHA:228426

NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773

phosphoglucomutase 3

NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980

PNP

purine nucleoside phosphorylase

MIM:613179

NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094

RAG1

recombination activating 1

ORPHA:231154

NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156

regulatory factor X5

NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326

RFXANK

regulatory factor X associated ankyrin containing protein

NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869

RFXAP

regulatory factor X associated protein

NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104

SASH3

SAM and SH3 domain containing 3

MIM:301082

NCBI chr X:129,779,949...129,795,201
Ensembl chr X:129,779,949...129,795,201

STAT1

signal transducer and activator of transcription 1

ORPHA:391487

NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960

STAT3

signal transducer and activator of transcription 3

MIM:615952

NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568

TOM1

target of myb1 membrane trafficking protein

ORPHA:391487

NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992

TPP2

tripeptidyl peptidase 2

MIM:619220

NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958

Neutrophil inclusion bodies

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CDCA8

cell division cycle associated 8

ClinVar Annotator: match by term: Neutrophil inclusion bodies

NCBI chr 1:37,692,516...37,709,719
Ensembl chr 1:37,692,481...37,709,719

GBP1

guanylate binding protein 1

ClinVar Annotator: match by term: Neutrophil inclusion bodies

NCBI chr 1:89,052,319...89,065,208
Ensembl chr 1:89,051,882...89,065,360

MYH9

myosin heavy chain 9

MIM:155100 ORPHA:182050

NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010

PERM1

PPARGC1 and ESRR induced regulator, muscle 1

ClinVar Annotator: match by term: Neutrophil inclusion bodies

NCBI chr 1:975,198...982,093
Ensembl chr 1:975,198...982,117

SAMD11

sterile alpha motif domain containing 11

ClinVar Annotator: match by term: Neutrophil inclusion bodies

NCBI chr 1:923,923...944,574
Ensembl chr 1:923,923...944,575

STIL

STIL centriolar assembly protein

ClinVar Annotator: match by term: Neutrophil inclusion bodies

NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892

Neutrophilia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ARPC5

actin related protein 2/3 complex subunit 5

MIM:620565

NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783

ASXL transcriptional regulator 1

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

CSF3R

colony stimulating factor 3 receptor

MIM:162830

NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278

IL1RN

interleukin 1 receptor antagonist

MIM:612852

NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016

IL36RN

interleukin 36 receptor antagonist

MIM:614204

NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382

interferon regulatory factor 8

NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606

ITGB2

integrin subunit beta 2

susceptibility

DNA:polymorphisms:multiple

RGD

PMID:20549317

RGD:6482224

NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989

KIT proto-oncogene, receptor tyrosine kinase

NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783

MEFV

MEFV innate immunity regulator, pyrin

MIM:249100 ORPHA:3243

NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633

mevalonate kinase

NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125

OTULIN

OTU deubiquitinase with linear linkage specificity

MIM:617099

NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850

PIK3CD

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

MIM:619281

NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114

PTPN6

protein tyrosine phosphatase non-receptor type 6

ORPHA:3243

NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316

Rac family small GTPase 2

MIM:608203

NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594

RELB

RELB proto-oncogene, NF-kB subunit

MIM:617585

NCBI chr19:45,001,464...45,038,192
Ensembl chr19:45,001,461...45,038,192

SLC35C1

solute carrier family 35 member C1

MIM:266265 ORPHA:99843

NCBI chr11:45,804,079...45,813,016
Ensembl chr11:45,804,072...45,813,016

serine and arginine rich splicing factor 2

NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333

TBK1

TANK binding kinase 1

NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114

tet methylcytosine dioxygenase 2

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

TICAM1

TIR domain containing adaptor molecule 1

NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712

toll like receptor 3

NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073

TRAF3

TNF receptor associated factor 3

NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500

UNC93B1

unc-93 homolog B1, TLR signaling regulator

NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982

ZNFX1

zinc finger NFX1-type containing 1

MIM:619644

NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426

Neutrophilia in presence of infection

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APOB

apolipoprotein B

ClinVar Annotator: match by term: Neutrophilia in presence of infection

NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073

BSCL2

BSCL2 lipid droplet biogenesis associated, seipin

ClinVar Annotator: match by term: Neutrophilia in presence of infection

NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845

HNRNPUL2-BSCL2

HNRNPUL2-BSCL2 readthrough (NMD candidate)

ClinVar Annotator: match by term: Neutrophilia in presence of infection

NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384

Reduction of neutrophil motility

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Rac family small GTPase 2

MIM:608203

NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594

SLC35C1

solute carrier family 35 member C1

MIM:266265

NCBI chr11:45,804,079...45,813,016
Ensembl chr11:45,804,072...45,813,016

Sea-blue histiocytosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APOE

apolipoprotein E

ClinVar Annotator: match by term: Sea-blue histiocyte
ClinVar Annotator: match by term: Sea-blue histiocytosis

PMID:8488843 PMID:9279208 PMID:9360638 PMID:10432380 PMID:10529625 More...

MIM:269600 ORPHA:158029

NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393

galactosidase beta 1

NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202

NPC1

NPC intracellular cholesterol transporter 1

MIM:257220

NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506

NPC2

NPC intracellular cholesterol transporter 2

MIM:607625

NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177

SMPD1

sphingomyelin phosphodiesterase 1

MIM:257200 MIM:607616

NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998

Splenic hemophagocytosis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

XIAP

X-linked inhibitor of apoptosis

ORPHA:538934

NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972

Transient neutropenia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

DnaJ heat shock protein family (Hsp40) member C21

NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964

elongation factor like GTPase 1

NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773

FIBP

FGF1 intracellular binding protein

MIM:617107 ORPHA:500095

NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531

IRAK4

interleukin 1 receptor associated kinase 4

MIM:607676

NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307

SBDS ribosome maturation factor