RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: severe congenital neutropenia
Accession: DOID:0050590
browse the term
Definition: A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (DO)
Synonyms: exact_synonym: congenital neutropenia; infantile genetic agranulocytosis; primary neutropenia; severe infantile genetic agranulocytosis; severe infantile genetic neutropenia
xref: GARD:13592 ; OMIM:PS202700 ; ORDO:42738 ; ORDO:486 ; ORDO:86788
G
Csf3r
colony stimulating factor 3 receptor
disease_progression
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar RGD
PMID:24753537 PMID:26324699 PMID:28492532 PMID:32581362 PMID:16985178 PMID:11110716 More...
RGD:10450485 , RGD:10450533
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
G
Elane
elastase, neutrophil expressed
ISO
mRNA:decreased expression:myeloid CD33+ cell: DNA:mutations: : DNA:mutation:intron:c.597+1G>A (human)
RGD
PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599
RGD:1598891 , RGD:10450525 , RGD:10450519 , RGD:10450514
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
G
Fcho1
FCH and mu domain containing endocytic adaptor 1
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
PMID:30822429 PMID:32098969
NCBI chr16:18,413,452...18,430,795
Ensembl chr16:18,413,363...18,435,104
G
G6pc3
glucose 6 phosphatase catalytic subunit 3
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
G
Gfi1
growth factor independent 1 transcriptional repressor
ISS
OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022
MouseDO
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
G
Hax1
HCLS1 associated protein X-1
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
PMID:16199547 PMID:17187068 PMID:19036076 PMID:19499579 PMID:22624626 PMID:25741868 PMID:28492532 PMID:31589614 PMID:32054657 PMID:34426522 More...
NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
G
Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
PMID:25129144 PMID:25741868 PMID:25851723 PMID:28492532 PMID:30044346 PMID:31031743 PMID:32419428 PMID:32888943 PMID:33206996 PMID:33718801 More...
NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
G
Tcirg1
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3
ISO
ClinVar Annotator: match by term: Congenital neutropenia
ClinVar
PMID:24753205
NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
G
Elane
elastase, neutrophil expressed
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
OMIM CTD ClinVar
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 PMID:14962902 PMID:15657182 PMID:16079102 PMID:16551967 PMID:16737875 PMID:17053055 PMID:17576681 PMID:18028488 PMID:18611981 PMID:19036076 PMID:20049848 PMID:20301705 PMID:20582973 PMID:21425445 PMID:22148006 PMID:22758217 PMID:23463630 PMID:24523240 PMID:24616599 PMID:25427142 PMID:25741868 PMID:26567890 PMID:28073911 PMID:28492532 PMID:30040071 PMID:30273710 PMID:30386760 PMID:30635825 PMID:31248972 PMID:31321910 PMID:31839986 PMID:32581362 PMID:33318085 More...
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
G
Tcirg1
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
ClinVar
PMID:24753205
NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
G
Vps13b
vacuolar protein sorting 13 homolog B
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
ClinVar
PMID:16648375 PMID:25741868 PMID:28492532
NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
G
Dipk1a
divergent protein kinase domain 1A
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
G
Evi5
ecotropic viral integration site 5
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr14:1,875,601...2,021,678
Ensembl chr14:1,875,647...2,021,678
G
Gfi1
growth factor independent 1 transcriptional repressor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
OMIM CTD ClinVar
PMID:9536098 PMID:11807637 PMID:12778173 PMID:17576681 PMID:20560965 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
G
Rpl5
ribosomal protein L5
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
G
Snord21
small nucleolar RNA, C/D box 21
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr14:1,847,134...1,847,227
Ensembl chr14:1,847,134...1,847,227
G
Adam15
ADAM metallopeptidase domain 15
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113
G
Adamtsl4
ADAMTS-like 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
G
Adar
adenosine deaminase, RNA-specific
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
G
Anp32e
acidic nuclear phosphoprotein 32 family member E
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,472,600...183,489,057
Ensembl chr 2:183,472,609...183,489,054
G
Anxa9
annexin A9
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,873,185...182,884,501
Ensembl chr 2:182,872,929...182,883,374
G
Aph1a
aph-1 homolog A, gamma secretase subunit
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955
G
Aqp10
aquaporin 10
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815
G
Arhgef2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
G
Arnt
aryl hydrocarbon receptor nuclear translocator
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
G
Ash1l
ASH1 like histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
G
Atp8b2
ATPase phospholipid transporting 8B2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883
G
Bcan
brevican
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
G
Bglap
bone gamma-carboxyglutamate protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
G
Bnipl
BCL2 interacting protein like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,818,593...182,830,421
Ensembl chr 2:182,818,595...182,828,588
G
C2cd4d
C2 calcium-dependent domain containing 4D
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:181,999,778...182,001,941
Ensembl chr 2:181,997,078...182,002,087
G
C2h1orf54
similar to human chromosome 1 open reading frame 54
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,424,989...183,434,713
Ensembl chr 2:183,424,984...183,435,089
G
C2h1orf56
similar to human chromosome 1 open reading frame 56
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,814,794...182,818,387
Ensembl chr 2:182,814,793...182,818,512
G
Car14
carbonic anhydrase 14
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,442,263...183,449,231
Ensembl chr 2:183,441,667...183,449,693
G
Cct3
chaperonin containing TCP1 subunit 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,765,701...173,790,353
Ensembl chr 2:173,765,698...173,790,757
G
Cdc42se1
CDC42 small effector 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,805,691...182,813,520
Ensembl chr 2:182,804,925...182,814,028
G
Celf3
CUGBP, Elav-like family member 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,116,034...182,130,163
Ensembl chr 2:182,116,073...182,130,163
G
Cers2
ceramide synthase 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,890,527...182,898,805
Ensembl chr 2:182,890,493...182,933,314
G
Cfap141
cilia and flagella associated protein 141
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662
G
Cgn
cingulin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,308,389...182,335,747
Ensembl chr 2:182,308,714...182,334,645
G
Chrnb2
cholinergic receptor nicotinic beta 2 subunit
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
G
Chtop
chromatin target of PRMT1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,981,266...175,992,820
Ensembl chr 2:175,981,271...175,992,748
G
Ciart
circadian associated repressor of transcription
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,419,819...183,424,845
Ensembl chr 2:183,419,819...183,423,313
G
Cks1b
CDC28 protein kinase regulatory subunit 1B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,833,025...174,837,614
Ensembl chr 2:174,833,050...174,837,636
G
Clk2
CDC-like kinase 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,570,614...174,582,645
Ensembl chr 2:174,570,653...174,588,985
G
Crabp2
cellular retinoic acid binding protein 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379
G
Crct1
cysteine-rich C-terminal 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,633,789...178,635,274
Ensembl chr 2:178,634,092...178,634,394
G
Creb3l4
cAMP responsive element binding protein 3-like 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932
G
Crnn
cornulin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,733,329...178,736,404
Ensembl chr 2:178,731,796...178,736,216
G
Crtc2
CREB regulated transcription coactivator 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763
G
Ctsk
cathepsin K
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
G
Ctss
cathepsin S
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
G
Dap3
death associated protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461
G
Dcst1
DC-STAMP domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,765,203...174,784,023
Ensembl chr 2:174,765,350...174,781,806
G
Dcst2
DC-STAMP domain containing 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,781,806...174,795,834
Ensembl chr 2:174,781,902...174,795,832
G
Dennd4b
DENN domain containing 4B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426
G
Dpm3
dolichyl-phosphate mannosyltransferase subunit 3, regulatory
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668 Ensembl chr15:174,676,363...174,677,668
G
Ecm1
extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671
G
Efna1
ephrin A1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,681,676...174,689,061
Ensembl chr 2:174,681,682...174,690,866
G
Efna3
ephrin A3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,729,192...174,738,111
Ensembl chr 2:174,729,764...174,738,736
G
Efna4
ephrin A4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,748,729...174,752,979
Ensembl chr 2:174,748,724...174,752,979
G
Ensa
endosulfine alpha
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,185,552...183,192,888
Ensembl chr 2:183,185,552...183,194,847
G
Entrep3
endosomal transmembrane epsin interactor 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,588,984...174,595,281
Ensembl chr 2:174,589,337...174,595,281
G
Fdps
farnesyl diphosphate synthase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
G
Flad1
flavin adenine dinucleotide synthetase 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977
G
Flg
filaggrin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,884,793...178,912,986
G
Flg2
filaggrin 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,789,792...178,802,232
G
Gabpb2
GA binding protein transcription factor subunit beta 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,755,304...182,795,368
Ensembl chr 2:182,761,359...182,795,109
G
Gatad2b
GATA zinc finger domain containing 2B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542
G
Gba1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Glmp
glycosylated lysosomal membrane protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,794,273...173,797,863
Ensembl chr 2:173,794,255...173,799,960
G
Golph3l
golgi phosphoprotein 3-like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,151,941...183,183,094
Ensembl chr 2:183,153,301...183,183,083
G
Gon4l
gon-4 like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634
G
Gpatch4
G patch domain containing 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,499,700...173,520,346
Ensembl chr 2:173,509,897...173,518,684
G
Hapln2
hyaluronan and proteoglycan link protein 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,488,909...173,496,824
Ensembl chr 2:173,491,160...173,496,588
G
Hax1
HCLS1 associated protein X-1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kostmann syndrome
OMIM CTD ClinVar
PMID:9536098 PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 PMID:17576681 PMID:18055975 PMID:18330843 PMID:18337561 PMID:18611981 PMID:19036076 PMID:19118303 PMID:19499579 PMID:20065084 PMID:20177699 PMID:20182745 PMID:20220065 PMID:21108402 PMID:21344642 PMID:22102707 PMID:22624626 PMID:24482108 PMID:25326635 PMID:25741868 PMID:28102861 PMID:28454995 PMID:28492532 PMID:31589614 PMID:31980526 PMID:32005694 PMID:32054657 PMID:32581362 PMID:33381479 PMID:34134972 PMID:34426522 PMID:34826056 More...
NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
G
Hcn3
hyperpolarization-activated cyclic nucleotide-gated potassium channel 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966
G
Hdgf
heparin binding growth factor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747
G
Hormad1
HORMA domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,115,815...183,152,383
Ensembl chr 2:183,116,716...183,152,383
G
Hrnr
hornerin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
G
Il6r
interleukin 6 receptor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
G
Ilf2
interleukin enhancer binding factor 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,952,174...175,971,191
Ensembl chr 2:175,952,186...175,971,337
G
Insrr
insulin receptor-related receptor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
G
Ints3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709
G
Iqgap3
IQ motif containing GTPase activating protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,542,151...173,583,956
Ensembl chr 2:173,542,110...173,583,956
G
Isg20l2
interferon stimulated exonuclease gene 20-like 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,396,780...173,407,102
Ensembl chr 2:173,396,780...173,406,614
G
Ivl
involucrin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,146,694...178,160,807
Ensembl chr 2:178,147,061...178,149,100
G
Jtb
jumping translocation breakpoint
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108
G
Kcnn3
potassium calcium-activated channel subfamily N member 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145
G
Khdc4
KH domain containing 4, pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504
G
Kplce
KPRP N-terminal and LCE C-terminal like protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,481,482...178,483,434
Ensembl chr 2:178,481,373...178,483,424
G
Kprp
keratinocyte proline-rich protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,429,923...178,434,221
Ensembl chr 2:178,429,923...178,434,221
G
Krtcap2
keratinocyte associated protein 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,654,409...174,658,405
Ensembl chr 2:174,654,219...174,658,405
G
Lamtor2
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013
G
Lce1b
late cornified envelope 1B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,255,351...178,257,533
Ensembl chr 2:178,256,213...178,257,985
G
Lce1d
late cornified envelope 1D
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
G
Lce1e
late cornified envelope 1E
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,462,100...178,463,433
Ensembl chr 2:178,462,100...178,463,433
G
Lce1f
late cornified envelope 1F
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,305,786...178,307,372
Ensembl chr 2:178,305,786...178,307,372
G
Lce3e
late cornified envelope 3E
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,578,488...178,579,661
Ensembl chr 2:178,579,162...178,579,458
G
Lce6a
late cornified envelope 6A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,194,148...178,195,234
Ensembl chr 2:178,194,318...178,194,563
G
Lelp1
late cornified envelope-like proline-rich 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
G
Lenep
lens epithelial protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,819,439...174,820,127
Ensembl chr 2:174,819,459...174,820,127
G
Lingo4
leucine rich repeat and Ig domain containing 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,035,522...182,040,787
Ensembl chr 2:182,014,326...182,040,787
G
Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
LOC120100584
small proline-rich protein 2I-like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,815,964...177,816,236
Ensembl chr 2:177,815,964...177,816,236
G
Loricrin
loricrin cornified envelope precursor protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,558,062...177,560,960
Ensembl chr 2:177,558,252...177,559,807
G
Lysmd1
LysM domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,704,921...182,714,466
Ensembl chr 2:182,704,916...182,710,412
G
Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
G
Mef2d
myocyte enhancer factor 2D
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457
G
Mettl25b
methyltransferase like 25B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,388,625...173,397,279
Ensembl chr 2:173,388,625...173,397,279
G
Mex3a
mex-3 RNA binding family member A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377
G
Mindy1
MINDY lysine 48 deubiquitinase 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,859,977...182,873,000
Ensembl chr 2:182,860,472...182,873,015
G
Mllt11
MLLT11, transcription factor 7 cofactor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199
G
mrpl24
mitochondrial ribosomal protein L24
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,383,062...173,389,249
Ensembl chr 2:173,383,224...173,389,248
G
mrpl9
mitochondrial ribosomal protein L9
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,082,012...182,086,758
Ensembl chr 2:182,076,369...182,087,095
G
Mrps21
mitochondrial ribosomal protein S21
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,406,791...183,414,413
Ensembl chr 2:183,406,792...183,414,372
G
Msto1
misato mitochondrial distribution and morphology regulator 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216
G
Mtmr11
myotubularin related protein 11
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,721,983...183,732,148
Ensembl chr 2:183,723,530...183,732,148
G
Mtx1
Metaxin 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,615,460...174,621,383
Ensembl chr 2:174,615,461...174,620,982
G
Muc1
mucin 1, cell surface associated
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Naxe
NAD(P)HX epimerase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:173,518,971...173,521,040
G
Nes
nestin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
G
Npr1
natriuretic peptide receptor 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
G
Ns5atp4
NS5A transactivated protein 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,494,406...175,507,281
Ensembl chr 2:175,494,304...175,510,663
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
G
Nup210l
nucleoporin 210-like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332
G
Oaz3
ornithine decarboxylase antizyme 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,073,212...182,076,147
Ensembl chr 2:182,073,215...182,082,399
G
Otud7b
OTU deubiquitinase 7B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,661,955...183,722,584
Ensembl chr 2:183,662,163...183,718,674
G
Paqr6
progestin and adipoQ receptor family member 6
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,832,241...173,838,443
Ensembl chr 2:173,833,880...173,838,456
G
Pbxip1
PBX homeobox interacting protein 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,856,339...174,868,922
Ensembl chr 2:174,856,397...174,868,919
G
Pglyrp3
peptidoglycan recognition protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,479,693...177,490,769
Ensembl chr 2:177,477,407...177,490,736 Ensembl chr 2:177,477,407...177,490,736
G
Pglyrp4
peptidoglycan recognition protein 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,202,654...176,322,859
Ensembl chr 2:176,218,519...176,242,251
G
Pi4kb
phosphatidylinositol 4-kinase beta
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488
G
Pip5k1a
phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598
G
Pklr
pyruvate kinase L/R
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
G
Plekho1
pleckstrin homology domain containing O1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,544,487...183,552,928
Ensembl chr 2:183,544,499...183,552,785
G
Pmf1
polyamine-modulated factor 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270
G
Pmvk
phosphomevalonate kinase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
G
Pogz
pogo transposable element derived with ZNF domain
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
G
Prcc
proline rich mitotic checkpoint control factor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825
G
Prpf3
pre-mRNA processing factor 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489
G
Prr9
proline rich 9
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,599,483...177,600,849
Ensembl chr 2:177,599,483...177,600,849
G
Prune1
prune exopolyphosphatase 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336
G
Psmb4
proteasome 20S subunit beta 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
G
Psmd4
proteasome 26S subunit ubiquitin receptor, non-ATPase 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,598,934...182,608,250
Ensembl chr 2:182,598,934...182,608,194
G
Pygo2
pygopus family PHD finger 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,849,670...174,854,758
Ensembl chr 2:174,849,936...174,854,758
G
Rab13
RAB13, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036
G
Rab25
RAB25, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422
G
Rfx5
regulatory factor X5
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717
G
Rhbg
Rh family B glycoprotein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,704,852...173,717,380
Ensembl chr 2:173,704,562...173,717,321
G
Riiad1
regulatory subunit of type II PKA R-subunit domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,099,924...182,110,544
Ensembl chr 2:182,101,795...182,110,319
G
Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
G
Rorc
RAR-related orphan receptor C
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
G
Rprd2
regulation of nuclear pre-mRNA domain containing 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,311,132...183,367,959
Ensembl chr 2:183,293,114...183,367,407
G
Rps27
ribosomal protein S27
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964
G
Rptn
repetin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:179,061,768...179,066,056
Ensembl chr 2:179,060,017...179,065,910
G
Rusc1
RUN and SH3 domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,487,921...174,497,266
Ensembl chr 2:174,486,665...174,507,776
G
Rxfp4
relaxin family peptide/INSL5 receptor 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,123,510...174,124,664
G
S100a1
S100 calcium binding protein A1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,993,922...175,998,765
Ensembl chr 2:175,993,922...175,999,544
G
S100a10
S100 calcium binding protein A10
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
G
S100a11
S100 calcium binding protein A11
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:179,191,688...179,197,098
Ensembl chr 2:179,191,715...179,197,044
G
S100a13
S100 calcium binding protein A13
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,999,439...176,005,933
G
S100a14
S100 calcium binding protein A14
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,008,395...176,010,423
Ensembl chr 2:176,008,395...176,010,423
G
S100a16
S100 calcium binding protein A16
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,016,405...176,022,117
Ensembl chr 2:176,016,268...176,022,117
G
S100a2
S100 calcium binding protein A2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,077,081...176,078,325
G
S100a3
S100 calcium binding protein A3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,034,283...176,089,702
Ensembl chr 2:176,049,520...176,089,702
G
S100a4
S100 calcium-binding protein A4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
G
S100a5
S100 calcium binding protein A5
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,095,332...176,099,546
Ensembl chr 2:176,097,539...176,099,546
G
S100a6
S100 calcium binding protein A6
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
G
S100a7a
S100 calcium binding protein A7A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441
G
S100a8
S100 calcium binding protein A8
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
G
S100a9
S100 calcium binding protein A9
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
G
Scamp3
secretory carrier membrane protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,583,124...174,588,984
Ensembl chr 2:174,570,653...174,588,985
G
Selenbp1
selenium binding protein 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,494,004...182,504,594
Ensembl chr 2:182,493,978...182,504,594
G
Sema4a
semaphorin 4A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
G
Sema6c
semaphorin 6C
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,733,635...182,750,066
Ensembl chr 2:182,737,474...182,746,856
G
Setdb1
SET domain bifurcated histone lysine methyltransferase 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
G
Sf3b4
splicing factor 3B subunit 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
G
Sh2d2a
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
G
Shc1
SHC adaptor protein 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
G
She
Src homology 2 domain containing E
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669
G
Slc25a44
solute carrier family 25, member 44
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,868,317...173,883,137
Ensembl chr 2:173,868,320...173,883,020
G
Slc27a3
solute carrier family 27 member 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,853,241...175,857,909
Ensembl chr 2:175,853,241...175,857,909
G
Slc39a1
solute carrier family 39 member 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058
G
Slc50a1
solute carrier family 50 member 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,677,985...174,680,366
Ensembl chr 2:174,677,708...174,680,366
G
Smcp
sperm mitochondria-associated cysteine-rich protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,160,948...178,165,951
Ensembl chr 2:178,160,127...178,166,001
G
Smg5
SMG5 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,804,987...173,832,102
Ensembl chr 2:173,805,019...173,832,102
G
Snapin
SNAP-associated protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,971,575...175,974,164
Ensembl chr 2:175,971,257...175,974,231
G
Snx27
sorting nexin 27
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906
G
Sprr1a
small proline-rich protein 1A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,055,096...178,057,012
Ensembl chr 2:178,055,096...178,057,063
G
Sprr1b
small proline-rich protein 1B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,008,844...178,010,742
Ensembl chr 2:178,009,130...178,009,567
G
Sprr2a2
small proline-rich protein 2A2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,719,576...177,719,845
Ensembl chr 2:177,719,576...177,719,845
G
Sprr2b
small proline rich protein 2B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096
G
Sprr2d
small proline-rich protein 2D
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,870,082...177,870,679
Ensembl chr 2:177,870,434...177,870,679
G
Sprr2f
small proline rich protein 2F
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,989,974...177,990,204
Ensembl chr 2:177,989,974...177,990,204
G
Sprr3
small proline-rich protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,027,743...178,028,501
Ensembl chr 2:178,027,425...178,029,891
G
Sprr4
small proline-rich protein 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,082,466...178,083,125
Ensembl chr 2:178,082,871...178,083,104
G
Ssr2
signal sequence receptor subunit 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042
G
Syt11
synaptotagmin 11
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964
G
Tars2
threonyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184
G
Tchh
trichohyalin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:179,103,660...179,112,014
Ensembl chr 2:179,109,609...179,110,985 Ensembl chr 2:179,109,609...179,110,985
G
Tchhl1
trichohyalin-like 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:179,134,941...179,138,467
Ensembl chr 2:179,135,796...179,138,202
G
Tdrkh
tudor and KH domain containing
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,049,175...182,071,516
Ensembl chr 2:182,049,215...182,070,755
G
Thbs3
thrombospondin 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594
G
Them4
thioesterase superfamily member 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:181,953,550...181,974,708
Ensembl chr 2:181,953,550...181,974,708
G
Them5
thioesterase superfamily member 5
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:181,980,783...181,986,002
Ensembl chr 2:181,980,783...181,986,002
G
Tmem79
transmembrane protein 79
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
G
Tmod4
tropomodulin 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,695,709...182,700,540
Ensembl chr 2:182,695,709...182,700,540
G
Tnfaip8l2
TNF alpha induced protein 8 like 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,710,433...182,726,724
Ensembl chr 2:182,709,378...182,726,760
G
Tpm3
tropomyosin 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013
G
Trim46
tripartite motif-containing 46
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,641,494...174,654,237
Ensembl chr 2:174,641,496...174,654,141
G
Tsacc
TSSK6 activating co-chaperone
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,755,841...173,765,564
Ensembl chr 2:173,753,786...173,765,404
G
Ttc24
tetratricopeptide repeat domain 24
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,525,204...173,533,182
Ensembl chr 2:173,524,600...173,533,107
G
Tuft1
tuftelin 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192
G
Ubap2l
ubiquitin associated protein 2-like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998
G
Ube2q1
ubiquitin conjugating enzyme E2 Q1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 2:175,198,793...175,209,152
Ensembl chr 2:175,198,873...175,207,942
G
Ubqln4
ubiquilin 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059
G
Vps45
vacuolar protein sorting 45 homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kostmann syndrome
CTD ClinVar
PMID:23599270 PMID:28492532
NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
G
Vps72
vacuolar protein sorting 72 homolog
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,678,594...182,690,185
Ensembl chr 2:182,678,609...182,690,182
G
Zbtb7b
zinc finger and BTB domain containing 7B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,795,831...174,811,980
Ensembl chr 2:174,797,453...174,814,236
G
Zfp687
zinc finger protein 687
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647
G
G6pc3
glucose 6 phosphatase catalytic subunit 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19011569 PMID:19118303 PMID:19775295 PMID:20616219 PMID:20717171 PMID:20799326 PMID:21285905 PMID:21385794 PMID:22050868 PMID:22469094 PMID:23171239 PMID:23180359 PMID:23298686 PMID:23441086 PMID:23758768 PMID:24033266 PMID:24549407 PMID:24750412 PMID:25284454 PMID:25326635 PMID:25391451 PMID:25491320 PMID:25492228 PMID:25741868 PMID:27571123 PMID:27577878 PMID:27611587 PMID:28492532 PMID:31564432 More...
NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
G
Adam15
ADAM metallopeptidase domain 15
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113
G
Adamtsl4
ADAMTS-like 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
G
Adar
adenosine deaminase, RNA-specific
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
G
Anp32e
acidic nuclear phosphoprotein 32 family member E
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,472,600...183,489,057
Ensembl chr 2:183,472,609...183,489,054
G
Anxa9
annexin A9
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,873,185...182,884,501
Ensembl chr 2:182,872,929...182,883,374
G
Aph1a
aph-1 homolog A, gamma secretase subunit
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955
G
Aqp10
aquaporin 10
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815
G
Arhgef2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
G
Arnt
aryl hydrocarbon receptor nuclear translocator
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
G
Ash1l
ASH1 like histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
G
Atp8b2
ATPase phospholipid transporting 8B2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883
G
Bcan
brevican
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
G
Bglap
bone gamma-carboxyglutamate protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
G
Bnipl
BCL2 interacting protein like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,818,593...182,830,421
Ensembl chr 2:182,818,595...182,828,588
G
C2cd4d
C2 calcium-dependent domain containing 4D
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:181,999,778...182,001,941
Ensembl chr 2:181,997,078...182,002,087
G
C2h1orf54
similar to human chromosome 1 open reading frame 54
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,424,989...183,434,713
Ensembl chr 2:183,424,984...183,435,089
G
C2h1orf56
similar to human chromosome 1 open reading frame 56
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,814,794...182,818,387
Ensembl chr 2:182,814,793...182,818,512
G
Car14
carbonic anhydrase 14
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,442,263...183,449,231
Ensembl chr 2:183,441,667...183,449,693
G
Cct3
chaperonin containing TCP1 subunit 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,765,701...173,790,353
Ensembl chr 2:173,765,698...173,790,757
G
Cdc42se1
CDC42 small effector 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,805,691...182,813,520
Ensembl chr 2:182,804,925...182,814,028
G
Celf3
CUGBP, Elav-like family member 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,116,034...182,130,163
Ensembl chr 2:182,116,073...182,130,163
G
Cers2
ceramide synthase 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,890,527...182,898,805
Ensembl chr 2:182,890,493...182,933,314
G
Cfap141
cilia and flagella associated protein 141
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662
G
Cgn
cingulin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,308,389...182,335,747
Ensembl chr 2:182,308,714...182,334,645
G
Chrnb2
cholinergic receptor nicotinic beta 2 subunit
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
G
Chtop
chromatin target of PRMT1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,981,266...175,992,820
Ensembl chr 2:175,981,271...175,992,748
G
Ciart
circadian associated repressor of transcription
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,419,819...183,424,845
Ensembl chr 2:183,419,819...183,423,313
G
Cks1b
CDC28 protein kinase regulatory subunit 1B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,833,025...174,837,614
Ensembl chr 2:174,833,050...174,837,636
G
Clk2
CDC-like kinase 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,570,614...174,582,645
Ensembl chr 2:174,570,653...174,588,985
G
Crabp2
cellular retinoic acid binding protein 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379
G
Crct1
cysteine-rich C-terminal 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,633,789...178,635,274
Ensembl chr 2:178,634,092...178,634,394
G
Creb3l4
cAMP responsive element binding protein 3-like 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932
G
Crnn
cornulin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,733,329...178,736,404
Ensembl chr 2:178,731,796...178,736,216
G
Crtc2
CREB regulated transcription coactivator 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763
G
Ctsk
cathepsin K
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
G
Ctss
cathepsin S
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
G
Dap3
death associated protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461
G
Dcst1
DC-STAMP domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,765,203...174,784,023
Ensembl chr 2:174,765,350...174,781,806
G
Dcst2
DC-STAMP domain containing 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,781,806...174,795,834
Ensembl chr 2:174,781,902...174,795,832
G
Dennd4b
DENN domain containing 4B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426
G
Dpm3
dolichyl-phosphate mannosyltransferase subunit 3, regulatory
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668 Ensembl chr15:174,676,363...174,677,668
G
Ecm1
extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671
G
Efna1
ephrin A1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,681,676...174,689,061
Ensembl chr 2:174,681,682...174,690,866
G
Efna3
ephrin A3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,729,192...174,738,111
Ensembl chr 2:174,729,764...174,738,736
G
Efna4
ephrin A4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,748,729...174,752,979
Ensembl chr 2:174,748,724...174,752,979
G
Ensa
endosulfine alpha
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,185,552...183,192,888
Ensembl chr 2:183,185,552...183,194,847
G
Entrep3
endosomal transmembrane epsin interactor 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,588,984...174,595,281
Ensembl chr 2:174,589,337...174,595,281
G
Fdps
farnesyl diphosphate synthase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
G
Flad1
flavin adenine dinucleotide synthetase 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977
G
Flg
filaggrin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,884,793...178,912,986
G
Flg2
filaggrin 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,789,792...178,802,232
G
Gabpb2
GA binding protein transcription factor subunit beta 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,755,304...182,795,368
Ensembl chr 2:182,761,359...182,795,109
G
Gatad2b
GATA zinc finger domain containing 2B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542
G
Gba1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Glmp
glycosylated lysosomal membrane protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,794,273...173,797,863
Ensembl chr 2:173,794,255...173,799,960
G
Golph3l
golgi phosphoprotein 3-like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,151,941...183,183,094
Ensembl chr 2:183,153,301...183,183,083
G
Gon4l
gon-4 like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634
G
Gpatch4
G patch domain containing 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,499,700...173,520,346
Ensembl chr 2:173,509,897...173,518,684
G
Hapln2
hyaluronan and proteoglycan link protein 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,488,909...173,496,824
Ensembl chr 2:173,491,160...173,496,588
G
Hax1
HCLS1 associated protein X-1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
G
Hcn3
hyperpolarization-activated cyclic nucleotide-gated potassium channel 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966
G
Hdgf
heparin binding growth factor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747
G
Hormad1
HORMA domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,115,815...183,152,383
Ensembl chr 2:183,116,716...183,152,383
G
Hrnr
hornerin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
G
Il6r
interleukin 6 receptor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
G
Ilf2
interleukin enhancer binding factor 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,952,174...175,971,191
Ensembl chr 2:175,952,186...175,971,337
G
Insrr
insulin receptor-related receptor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
G
Ints3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709
G
Iqgap3
IQ motif containing GTPase activating protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,542,151...173,583,956
Ensembl chr 2:173,542,110...173,583,956
G
Isg20l2
interferon stimulated exonuclease gene 20-like 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,396,780...173,407,102
Ensembl chr 2:173,396,780...173,406,614
G
Ivl
involucrin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,146,694...178,160,807
Ensembl chr 2:178,147,061...178,149,100
G
Jtb
jumping translocation breakpoint
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108
G
Kcnn3
potassium calcium-activated channel subfamily N member 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145
G
Khdc4
KH domain containing 4, pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504
G
Kplce
KPRP N-terminal and LCE C-terminal like protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,481,482...178,483,434
Ensembl chr 2:178,481,373...178,483,424
G
Kprp
keratinocyte proline-rich protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,429,923...178,434,221
Ensembl chr 2:178,429,923...178,434,221
G
Krtcap2
keratinocyte associated protein 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,654,409...174,658,405
Ensembl chr 2:174,654,219...174,658,405
G
Lamtor2
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013
G
Lce1b
late cornified envelope 1B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,255,351...178,257,533
Ensembl chr 2:178,256,213...178,257,985
G
Lce1d
late cornified envelope 1D
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
G
Lce1e
late cornified envelope 1E
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,462,100...178,463,433
Ensembl chr 2:178,462,100...178,463,433
G
Lce1f
late cornified envelope 1F
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,305,786...178,307,372
Ensembl chr 2:178,305,786...178,307,372
G
Lce3e
late cornified envelope 3E
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,578,488...178,579,661
Ensembl chr 2:178,579,162...178,579,458
G
Lce6a
late cornified envelope 6A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,194,148...178,195,234
Ensembl chr 2:178,194,318...178,194,563
G
Lelp1
late cornified envelope-like proline-rich 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
G
Lenep
lens epithelial protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,819,439...174,820,127
Ensembl chr 2:174,819,459...174,820,127
G
Lingo4
leucine rich repeat and Ig domain containing 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,035,522...182,040,787
Ensembl chr 2:182,014,326...182,040,787
G
Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
LOC120100584
small proline-rich protein 2I-like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,815,964...177,816,236
Ensembl chr 2:177,815,964...177,816,236
G
Loricrin
loricrin cornified envelope precursor protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,558,062...177,560,960
Ensembl chr 2:177,558,252...177,559,807
G
Lysmd1
LysM domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,704,921...182,714,466
Ensembl chr 2:182,704,916...182,710,412
G
Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
G
Mef2d
myocyte enhancer factor 2D
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457
G
Mettl25b
methyltransferase like 25B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,388,625...173,397,279
Ensembl chr 2:173,388,625...173,397,279
G
Mex3a
mex-3 RNA binding family member A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377
G
Mindy1
MINDY lysine 48 deubiquitinase 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,859,977...182,873,000
Ensembl chr 2:182,860,472...182,873,015
G
Mllt11
MLLT11, transcription factor 7 cofactor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199
G
mrpl24
mitochondrial ribosomal protein L24
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,383,062...173,389,249
Ensembl chr 2:173,383,224...173,389,248
G
mrpl9
mitochondrial ribosomal protein L9
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,082,012...182,086,758
Ensembl chr 2:182,076,369...182,087,095
G
Mrps21
mitochondrial ribosomal protein S21
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,406,791...183,414,413
Ensembl chr 2:183,406,792...183,414,372
G
Msto1
misato mitochondrial distribution and morphology regulator 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216
G
Mtmr11
myotubularin related protein 11
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,721,983...183,732,148
Ensembl chr 2:183,723,530...183,732,148
G
Mtx1
Metaxin 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,615,460...174,621,383
Ensembl chr 2:174,615,461...174,620,982
G
Muc1
mucin 1, cell surface associated
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Naxe
NAD(P)HX epimerase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:173,518,971...173,521,040
G
Nes
nestin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
G
Npr1
natriuretic peptide receptor 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
G
Ns5atp4
NS5A transactivated protein 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,494,406...175,507,281
Ensembl chr 2:175,494,304...175,510,663
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
G
Nup210l
nucleoporin 210-like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332
G
Oaz3
ornithine decarboxylase antizyme 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,073,212...182,076,147
Ensembl chr 2:182,073,215...182,082,399
G
Otud7b
OTU deubiquitinase 7B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,661,955...183,722,584
Ensembl chr 2:183,662,163...183,718,674
G
Paqr6
progestin and adipoQ receptor family member 6
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,832,241...173,838,443
Ensembl chr 2:173,833,880...173,838,456
G
Pbxip1
PBX homeobox interacting protein 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,856,339...174,868,922
Ensembl chr 2:174,856,397...174,868,919
G
Pglyrp3
peptidoglycan recognition protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,479,693...177,490,769
Ensembl chr 2:177,477,407...177,490,736 Ensembl chr 2:177,477,407...177,490,736
G
Pglyrp4
peptidoglycan recognition protein 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,202,654...176,322,859
Ensembl chr 2:176,218,519...176,242,251
G
Pi4kb
phosphatidylinositol 4-kinase beta
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488
G
Pip5k1a
phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598
G
Pklr
pyruvate kinase L/R
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
G
Plekho1
pleckstrin homology domain containing O1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,544,487...183,552,928
Ensembl chr 2:183,544,499...183,552,785
G
Pmf1
polyamine-modulated factor 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270
G
Pmvk
phosphomevalonate kinase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
G
Pogz
pogo transposable element derived with ZNF domain
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
G
Prcc
proline rich mitotic checkpoint control factor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825
G
Prpf3
pre-mRNA processing factor 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489
G
Prr9
proline rich 9
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,599,483...177,600,849
Ensembl chr 2:177,599,483...177,600,849
G
Prune1
prune exopolyphosphatase 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336
G
Psmb4
proteasome 20S subunit beta 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
G
Psmd4
proteasome 26S subunit ubiquitin receptor, non-ATPase 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,598,934...182,608,250
Ensembl chr 2:182,598,934...182,608,194
G
Pygo2
pygopus family PHD finger 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,849,670...174,854,758
Ensembl chr 2:174,849,936...174,854,758
G
Rab13
RAB13, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036
G
Rab25
RAB25, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422
G
Rfx5
regulatory factor X5
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717
G
Rhbg
Rh family B glycoprotein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,704,852...173,717,380
Ensembl chr 2:173,704,562...173,717,321
G
Riiad1
regulatory subunit of type II PKA R-subunit domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,099,924...182,110,544
Ensembl chr 2:182,101,795...182,110,319
G
Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
G
Rorc
RAR-related orphan receptor C
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
G
Rprd2
regulation of nuclear pre-mRNA domain containing 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,311,132...183,367,959
Ensembl chr 2:183,293,114...183,367,407
G
Rps27
ribosomal protein S27
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964
G
Rptn
repetin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:179,061,768...179,066,056
Ensembl chr 2:179,060,017...179,065,910
G
Rusc1
RUN and SH3 domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,487,921...174,497,266
Ensembl chr 2:174,486,665...174,507,776
G
Rxfp4
relaxin family peptide/INSL5 receptor 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,123,510...174,124,664
G
S100a1
S100 calcium binding protein A1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,993,922...175,998,765
Ensembl chr 2:175,993,922...175,999,544
G
S100a10
S100 calcium binding protein A10
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
G
S100a11
S100 calcium binding protein A11
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:179,191,688...179,197,098
Ensembl chr 2:179,191,715...179,197,044
G
S100a13
S100 calcium binding protein A13
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,999,439...176,005,933
G
S100a14
S100 calcium binding protein A14
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,008,395...176,010,423
Ensembl chr 2:176,008,395...176,010,423
G
S100a16
S100 calcium binding protein A16
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,016,405...176,022,117
Ensembl chr 2:176,016,268...176,022,117
G
S100a2
S100 calcium binding protein A2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,077,081...176,078,325
G
S100a3
S100 calcium binding protein A3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,034,283...176,089,702
Ensembl chr 2:176,049,520...176,089,702
G
S100a4
S100 calcium-binding protein A4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
G
S100a5
S100 calcium binding protein A5
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,095,332...176,099,546
Ensembl chr 2:176,097,539...176,099,546
G
S100a6
S100 calcium binding protein A6
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
G
S100a7a
S100 calcium binding protein A7A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441
G
S100a8
S100 calcium binding protein A8
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
G
S100a9
S100 calcium binding protein A9
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
G
Scamp3
secretory carrier membrane protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,583,124...174,588,984
Ensembl chr 2:174,570,653...174,588,985
G
Selenbp1
selenium binding protein 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,494,004...182,504,594
Ensembl chr 2:182,493,978...182,504,594
G
Sema4a
semaphorin 4A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
G
Sema6c
semaphorin 6C
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,733,635...182,750,066
Ensembl chr 2:182,737,474...182,746,856
G
Setdb1
SET domain bifurcated histone lysine methyltransferase 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
G
Sf3b4
splicing factor 3B subunit 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
G
Sh2d2a
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
G
Shc1
SHC adaptor protein 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
G
She
Src homology 2 domain containing E
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669
G
Slc25a44
solute carrier family 25, member 44
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,868,317...173,883,137
Ensembl chr 2:173,868,320...173,883,020
G
Slc27a3
solute carrier family 27 member 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,853,241...175,857,909
Ensembl chr 2:175,853,241...175,857,909
G
Slc39a1
solute carrier family 39 member 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058
G
Slc50a1
solute carrier family 50 member 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,677,985...174,680,366
Ensembl chr 2:174,677,708...174,680,366
G
Smcp
sperm mitochondria-associated cysteine-rich protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,160,948...178,165,951
Ensembl chr 2:178,160,127...178,166,001
G
Smg5
SMG5 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,804,987...173,832,102
Ensembl chr 2:173,805,019...173,832,102
G
Snapin
SNAP-associated protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,971,575...175,974,164
Ensembl chr 2:175,971,257...175,974,231
G
Snx27
sorting nexin 27
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906
G
Sprr1a
small proline-rich protein 1A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,055,096...178,057,012
Ensembl chr 2:178,055,096...178,057,063
G
Sprr1b
small proline-rich protein 1B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,008,844...178,010,742
Ensembl chr 2:178,009,130...178,009,567
G
Sprr2a2
small proline-rich protein 2A2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,719,576...177,719,845
Ensembl chr 2:177,719,576...177,719,845
G
Sprr2b
small proline rich protein 2B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096
G
Sprr2d
small proline-rich protein 2D
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,870,082...177,870,679
Ensembl chr 2:177,870,434...177,870,679
G
Sprr2f
small proline rich protein 2F
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:177,989,974...177,990,204
Ensembl chr 2:177,989,974...177,990,204
G
Sprr3
small proline-rich protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,027,743...178,028,501
Ensembl chr 2:178,027,425...178,029,891
G
Sprr4
small proline-rich protein 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,082,466...178,083,125
Ensembl chr 2:178,082,871...178,083,104
G
Ssr2
signal sequence receptor subunit 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042
G
Syt11
synaptotagmin 11
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964
G
Tars2
threonyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184
G
Tchh
trichohyalin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:179,103,660...179,112,014
Ensembl chr 2:179,109,609...179,110,985 Ensembl chr 2:179,109,609...179,110,985
G
Tchhl1
trichohyalin-like 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:179,134,941...179,138,467
Ensembl chr 2:179,135,796...179,138,202
G
Tdrkh
tudor and KH domain containing
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,049,175...182,071,516
Ensembl chr 2:182,049,215...182,070,755
G
Thbs3
thrombospondin 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594
G
Them4
thioesterase superfamily member 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:181,953,550...181,974,708
Ensembl chr 2:181,953,550...181,974,708
G
Them5
thioesterase superfamily member 5
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:181,980,783...181,986,002
Ensembl chr 2:181,980,783...181,986,002
G
Tmem79
transmembrane protein 79
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
G
Tmod4
tropomodulin 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,695,709...182,700,540
Ensembl chr 2:182,695,709...182,700,540
G
Tnfaip8l2
TNF alpha induced protein 8 like 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,710,433...182,726,724
Ensembl chr 2:182,709,378...182,726,760
G
Tpm3
tropomyosin 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013
G
Trim46
tripartite motif-containing 46
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,641,494...174,654,237
Ensembl chr 2:174,641,496...174,654,141
G
Tsacc
TSSK6 activating co-chaperone
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,755,841...173,765,564
Ensembl chr 2:173,753,786...173,765,404
G
Ttc24
tetratricopeptide repeat domain 24
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:173,525,204...173,533,182
Ensembl chr 2:173,524,600...173,533,107
G
Tuft1
tuftelin 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192
G
Ubap2l
ubiquitin associated protein 2-like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998
G
Ube2q1
ubiquitin conjugating enzyme E2 Q1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:175,198,793...175,209,152
Ensembl chr 2:175,198,873...175,207,942
G
Ubqln4
ubiquilin 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059
G
Vps45
vacuolar protein sorting 45 homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
OMIM CTD ClinVar
PMID:9536098 PMID:17576681 PMID:23599270 PMID:23738510 PMID:25640679 PMID:25741868 PMID:26358756 PMID:28492532 PMID:30294941 PMID:32037586 More...
NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
G
Vps72
vacuolar protein sorting 72 homolog
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,678,594...182,690,185
Ensembl chr 2:182,678,609...182,690,182
G
Zbtb7b
zinc finger and BTB domain containing 7B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,795,831...174,811,980
Ensembl chr 2:174,797,453...174,814,236
G
Zfp687
zinc finger protein 687
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647
G
Brk1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
G
Cidec
cell death-inducing DFFA-like effector c
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
G
Creld1
cysteine-rich with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
G
Emc3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029
G
Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
G
Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
G
Il17rc
interleukin 17 receptor C
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
G
Il17re
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
G
Jagn1
jagunal homolog 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency DNA:missense mutations: :multiple DNA:missense mutation:exon:p.H44Y (human)
OMIM CTD ClinVar RGD
PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:25851723 PMID:28492532 PMID:30044346 PMID:31031743 PMID:32419428 PMID:32888943 PMID:33206996 PMID:33718801 PMID:25129144 PMID:25851723 More...
RGD:11531099 , RGD:11531098
NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
G
Prrt3
proline-rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317
G
Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
G
Csf3r
colony stimulating factor 3 receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
OMIM CTD ClinVar
PMID:9536098 PMID:10449521 PMID:16199547 PMID:17576681 PMID:23604229 PMID:23634996 PMID:23656643 PMID:24033266 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24753537 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26324699 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28762112 PMID:30028820 PMID:30348809 PMID:30967555 PMID:31309983 PMID:31321910 PMID:31697825 PMID:32581362 PMID:33108454 More...
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
G
Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant
OMIM ClinVar
PMID:28492532 PMID:28972538 PMID:29914977
NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
G
Clpb
ClpB family mitochondrial disaggregase
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:34115842
NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
G
Akap4
A-kinase anchoring protein 4
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:15,435,391...15,445,684
Ensembl chr X:15,435,410...15,445,684
G
Araf
A-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
G
Bmp15
bone morphogenetic protein 15
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
G
Cacna1f
calcium voltage-gated channel subunit alpha1 F
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
G
Ccdc120
coiled-coil domain containing 120
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
G
Ccdc22
coiled-coil domain containing 22
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
G
Ccnb3
cyclin B3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885
G
Cdk16
cyclin-dependent kinase 16
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,492,814...1,504,309
Ensembl chr X:1,492,814...1,504,148
G
Cfp
complement factor properdin
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
G
Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
G
Dgkk
diacylglycerol kinase kappa
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987
G
Ebp
EBP, cholestenol delta-isomerase
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
G
Elane
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:24033266
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
G
Elk1
ETS transcription factor ELK1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
G
Eras
ES cell expressed Ras
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374
G
Foxp3
forkhead box P3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Ftsj1
FtsJ RNA 2'-O-methyltransferase 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:14,243,684...14,256,555
Ensembl chr X:14,244,050...14,252,030
G
Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
G
Glod5
glyoxalase domain containing 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
G
Gpkow
G patch domain and KOW motifs
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
G
Gripap1
GRIP1 associated protein 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679
G
Hdac6
histone deacetylase 6
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
G
Jade3
jade family PHD finger 3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,668,873...1,848,781
Ensembl chr X:1,669,930...1,845,138
G
Kcnd1
potassium voltage-gated channel subfamily D member 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
G
Magix
MAGI family member, X-linked
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045
G
Mir500
microRNA 500
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
G
Mir532
microRNA 532
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
G
Ndufb11
NADH:ubiquinone oxidoreductase subunit B11
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
G
Nudt10
nudix hydrolase 10
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
G
Nudt11
nudix hydrolase 11
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:16,326,775...16,333,396
Ensembl chr X:16,326,598...16,333,145
G
Otud5
OTU deubiquitinase 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
G
Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
G
Pim2
Pim-2 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
G
Plp2
proteolipid protein 2
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
G
Porcn
porcupine O-acyltransferase
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
G
Ppp1r3f
protein phosphatase 1, regulatory subunit 3F
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
G
Pqbp1
polyglutamine binding protein 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
G
Praf2
PRA1 domain family, member 2
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
G
Prickle3
prickle planar cell polarity protein 3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
G
Rbm10
RNA binding motif protein 10
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
G
Rbm3
RNA binding motif protein 3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
G
Rgn
regucalcin
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,619,030...1,634,456
Ensembl chr X:1,619,032...1,634,450
G
Rp2
RP2 activator of ARL3 GTPase
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,872,582...1,916,704
Ensembl chr X:1,873,306...1,916,688
G
Shroom4
shroom family member 4
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869
G
Slc35a2
solute carrier family 35 member A2
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
G
Slc38a5
solute carrier family 38, member 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498
G
Slc9a7
solute carrier family 9 member A7
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:2,214,064...2,395,052
Ensembl chr X:2,214,441...2,388,012
G
Spaca5
sperm acrosome associated 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:918,817...922,000
Ensembl chr X:918,817...922,049
G
Ssx1
SSX family member 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720
G
Suv39h1
SUV39H1 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
G
Suv39h1-ps1
SUV39H1 histone lysine methyltransferase, pseudogene 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:141,792,589...141,795,257
G
Syn1
synapsin I
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396
G
Syp
synaptophysin
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
G
Tbc1d25
TBC1 domain family, member 25
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
G
Tfe3
transcription factor binding to IGHM enhancer 3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
G
Timm17b
translocase of inner mitochondrial membrane 17b
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
G
Timp1
TIMP metallopeptidase inhibitor 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
G
Uba1
ubiquitin-like modifier activating enzyme 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
G
Usp11
ubiquitin specific peptidase 11
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520
G
Usp27x
ubiquitin specific peptidase 27, X-linked
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
G
Uxt
ubiquitously-expressed, prefoldin-like chaperone
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,126,110...1,138,670
Ensembl chr X:1,126,162...1,138,663
G
Was
WASP actin nucleation promoting factor
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:8069912 PMID:8528198 PMID:8528199 PMID:8530058 PMID:8595430 PMID:8666397 PMID:8682510 PMID:8743175 PMID:8757562 PMID:8757563 PMID:8931701 PMID:9126958 PMID:9326235 PMID:9476131 PMID:9536098 PMID:10202051 PMID:10447259 PMID:10449748 PMID:10653325 PMID:10691337 PMID:10698340 PMID:10737997 PMID:10909851 PMID:11167787 PMID:11242115 PMID:11298372 PMID:11442475 PMID:11793485 PMID:11877312 PMID:12199801 PMID:12727931 PMID:12969986 PMID:14504083 PMID:15284122 PMID:15469902 PMID:15497008 PMID:16091449 PMID:16199547 PMID:16511828 PMID:16638962 PMID:16804117 PMID:17213309 PMID:17250667 PMID:17400488 PMID:17576681 PMID:17703096 PMID:17724125 PMID:18162713 PMID:19006568 PMID:19308710 PMID:19328743 PMID:19817875 PMID:19863535 PMID:20173115 PMID:20232122 PMID:20513746 PMID:20546529 PMID:20959042 PMID:21185603 PMID:21710275 PMID:21771083 PMID:22038941 PMID:22229731 PMID:22426750 PMID:22523910 PMID:22679904 PMID:23023736 PMID:23033889 PMID:23160469 PMID:23527602 PMID:23689198 PMID:23807894 PMID:24210885 PMID:24402308 PMID:24728327 PMID:25091438 PMID:25332606 PMID:25476427 PMID:25741868 PMID:25792466 PMID:25862925 PMID:25931402 PMID:26261240 PMID:26368308 PMID:26502776 PMID:27566838 PMID:28492532 PMID:28600779 PMID:28623282 PMID:28641574 PMID:28748566 PMID:28901403 PMID:28956125 PMID:29078804 PMID:29896746 PMID:29991546 PMID:30549999 PMID:30697212 PMID:30981783 PMID:31064749 PMID:31352750 PMID:31354712 PMID:31965297 PMID:32097281 PMID:33225392 PMID:34355501 PMID:35729272 More...
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
G
Wdr13
WD repeat domain 13
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727
G
Wdr45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
G
Zfp157
zinc finger protein 157
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
G
Zfp182
zinc finger protein 182
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:927,439...1,001,474
Ensembl chr X:899,439...1,000,954
G
Znf81L
zinc finger protein 81 like
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all