RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: agranulocytosis
Accession: DOID:12987
browse the term
Definition: A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. (DO)
Synonyms: exact_synonym: Agranulocytoses; Granulocytopenia; Granulocytopenias; granulocytopenic disorder; granulopenia
primary_id: MESH:D000380
xref: NCI:C2863
For additional species annotation, visit the
Alliance of Genome Resources .
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8120554 PMID:11732872
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15999287
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:1331350
RGD:10450883
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Nqo2
N-ribosyldihydronicotinamide:quinone reductase 2
ISO
associated with schizophrenia;DNA:SNPs:exons, intron:multiple CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14617031 PMID:14617031
RGD:11073696
NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:SNP: :6672G>C (human)
RGD
PMID:20868635
RGD:11041752
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Clpb
caseinolytic mitochondrial matrix peptidase chaperone subunit B
ISO
ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661
NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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Clpb
caseinolytic mitochondrial matrix peptidase chaperone subunit B
ISO
OMIM
NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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Clpb
caseinolytic mitochondrial matrix peptidase chaperone subunit B
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
ClinVar
PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597510 PMID:25597511 PMID:25650066 PMID:25741868 PMID:26916670 PMID:27290639 PMID:27891836 PMID:28492532 PMID:28554332 PMID:28687938 PMID:32313153 PMID:34115842 PMID:34140661 PMID:34782754 PMID:35616898 More...
NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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Ace
angiotensin I converting enzyme
severity
ISO
DNA:deletion:intron:IVS16+1464-1751del (human) associated with acute leukemia;DNA:insertion/deletion:intron 16:
RGD
PMID:15806540 PMID:24819208
RGD:11038917 , RGD:11530041
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
susceptibility
ISO
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human)
RGD
PMID:19332043
RGD:11353804
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Fcgr3a
Fc gamma receptor 3A
treatment
ISO
associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human)
RGD
PMID:27282998
RGD:11344967
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism: : rs1695(human)
RGD
PMID:25008867
RGD:10755412
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Itpa
inosine triphosphatase
ISO
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human)
RGD
PMID:18685564
RGD:10766478
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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Mbl2
mannose binding lectin 2
susceptibility disease progression
ISO
associated with leukemia; associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon: associated with Neoplasms;DNA:SNP,haplotyep:promoter:
RGD
PMID:24819208 PMID:24453114 PMID:20930093
RGD:11530041 , RGD:11530056 , RGD:11530043
NCBI chr 1:228,016,439...228,024,736
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Mdm2
MDM2 proto-oncogene
susceptibility
ISO
associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human)
RGD
PMID:21706156
RGD:11073725
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Tp53
tumor protein p53
susceptibility
ISO
associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human)
RGD
PMID:21706156
RGD:11073725
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Abca7
ATP binding cassette subfamily A member 7
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
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Ap3b1
adaptor related protein complex 3 subunit beta 1
ISO
Neutropenia, cyclic
OMIA
PMID:47249 PMID:127610 PMID:173440 PMID:336117 PMID:347941 PMID:351627 PMID:438337 PMID:568046 PMID:686147 PMID:710550 PMID:719169 PMID:738429 PMID:738763 PMID:955040 PMID:995965 PMID:1013155 PMID:1167851 PMID:1251140 PMID:1259228 PMID:1379221 PMID:1699776 PMID:1893969 PMID:2172633 PMID:2458781 PMID:2830927 PMID:2945680 PMID:2979797 PMID:3026784 PMID:3181344 PMID:3491636 PMID:3607647 PMID:3996494 PMID:4170467 PMID:4430726 PMID:4587264 PMID:4591036 PMID:4612548 PMID:4703853 PMID:4795953 PMID:4796766 PMID:4834515 PMID:5054471 PMID:5054472 PMID:5366324 PMID:5529685 PMID:5534257 PMID:5581910 PMID:6067150 PMID:6096876 PMID:6506453 PMID:6759148 PMID:6803622 PMID:6837566 PMID:6846503 PMID:6853718 PMID:6884440 PMID:6972315 PMID:6976196 PMID:7011123 PMID:7059519 PMID:7060078 PMID:7066210 PMID:7281477 PMID:7350939 PMID:7405719 PMID:7474871 PMID:7519075 PMID:7528575 PMID:8737267 PMID:12750178 PMID:12897784 PMID:15059607 PMID:15576359 PMID:16610934 PMID:17053055 PMID:18951469 PMID:19208418 PMID:19941936 PMID:22285163 PMID:22845776 PMID:35904319 More...
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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Arhgap45
Rho GTPase activating protein 45
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268
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Arid3a
AT-rich interaction domain 3A
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599
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Cfd
complement factor D
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
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Cnn2
calponin 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,712,505...9,719,711
Ensembl chr 7:9,712,516...9,719,656
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Elane
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: Cyclical neutropenia DNA:mutations: :
OMIM ClinVar RGD
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 PMID:11724962 PMID:14962902 PMID:15657182 PMID:16079102 PMID:16551967 PMID:16737875 PMID:16986121 PMID:17576681 PMID:18028488 PMID:18611981 PMID:19036076 PMID:19415009 PMID:20049848 PMID:20582973 PMID:21425445 PMID:21618407 PMID:22758217 PMID:23382209 PMID:23463630 PMID:24184683 PMID:25427142 PMID:25703294 PMID:25741868 PMID:25912133 PMID:26567890 PMID:28073911 PMID:28492532 PMID:29076228 PMID:30040071 PMID:30386760 PMID:31176364 PMID:31248972 PMID:31321910 PMID:32581362 PMID:21425445 More...
RGD:10450519
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Fgf22
fibroblast growth factor 22
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,947,632...9,956,918
Ensembl chr 7:9,948,071...9,950,486
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Fstl3
follistatin like 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,924,670...9,929,195
Ensembl chr 7:9,923,576...9,939,639
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Gpx4
glutathione peroxidase 4
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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Grin3b
glutamate ionotropic receptor NMDA type subunit 3B
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183
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Hcn2
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
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Kiss1r
KISS1 receptor
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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Med16
mediator complex subunit 16
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172
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Misp
mitotic spindle positioning
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,870,390...9,886,541
Ensembl chr 7:9,870,444...9,886,541
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Palm
paralemmin
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,886,634...9,912,389
Ensembl chr 7:9,886,643...9,912,555
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Plppr3
phospholipid phosphatase related 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,831,162...9,842,434
Ensembl chr 7:9,831,162...9,845,296
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Polr2e
RNA polymerase II, I and III subunit E
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643
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Polrmt
RNA polymerase mitochondrial
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791
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Prss57
serine protease 57
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,915,667...9,922,996
Ensembl chr 7:9,917,484...9,922,922
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Prtn3
proteinase 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
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Ptbp1
polypyrimidine tract binding protein 1
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397
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R3hdm4
R3H domain containing 4
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512
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Rnf126
ring finger protein 126
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,939,359...9,946,963
Ensembl chr 7:9,938,229...9,946,738
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Tmem259
transmembrane protein 259
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932
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Wdr18
WD repeat domain 18
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:11724962 PMID:28492532
NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070
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Csf3
colony stimulating factor 3
treatment
ISO
associated with Graves Disease; associated with Multiple Myeloma;
RGD
PMID:15785251 PMID:8935143
RGD:11039034 , RGD:11039041
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Il1b
interleukin 1 beta
treatment
ISO
associated with Glioblastoma;
RGD
PMID:1331350
RGD:10450883
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
associated with Leukemia;protein:decreased expression:serum:
RGD
PMID:8698137
RGD:11528539
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Nat2
N-acetyltransferase 2
ISO
associated with Inflammation;
RGD
PMID:10739170
RGD:11532771
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Abcb1a
ATP binding cassette subfamily B member 1A
susceptibility
ISO
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human) Breast Neoplasms;DNA:SNP: :3435 C>T(human) associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)
RGD
PMID:17534875 PMID:22271208 PMID:25007187
RGD:11080964 , RGD:11081001 , RGD:11080979
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcc2
ATP binding cassette subfamily C member 2
susceptibility no_association
ISO
associated with neoplasm;DNA:SNP:rs12762549(human)
RGD
PMID:18294295 PMID:23188068
RGD:11080980 , RGD:11080999
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Csf3
colony stimulating factor 3
treatment
ISO
associated with Leukemia, Hairy Cell; associated with Hepatitis C, Chronic;
RGD
PMID:2461131 PMID:17660602
RGD:11039035 , RGD:11039036
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cyp2c79
cytochrome P450, family 2, subfamily c, polypeptide 79
susceptibility
ISO
associated with Ovarian Neoplasms: DNA:polymorphism: :
RGD
PMID:21702053
RGD:11353800
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
susceptibility
ISO
associated with Ovarian Neoplasms: DNA:polymorphism: : associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human)
RGD
PMID:21702053 PMID:19332043
RGD:11353800 , RGD:11353804
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Dpyd
dihydropyrimidine dehydrogenase
treatment no_association
ISO
associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human) associated with Neoplasms;DNA:missense mutations: :multiple associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human) DNA:splice-site mutation, missense mutations: :multiple associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)
RGD
PMID:12209976 PMID:19473056 PMID:19473056 PMID:11156223 PMID:23942539
RGD:11251736 , RGD:11098817 , RGD:11098817 , RGD:11251738 , RGD:11251737
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
associated with Colorectal Neoplasms;DNA:SNP
RGD
PMID:23543295
RGD:11340199
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
treatment
ISO
associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:21047201
RGD:11098572
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
treatment
ISO
associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human)
RGD
PMID:28924235
RGD:153323316
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Fcgr3a
Fc gamma receptor 3A
ISO
associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human) associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human) associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)
RGD
PMID:21883784 PMID:20730791 PMID:19933905
RGD:11344964 , RGD:11352256 , RGD:11344973
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:SNP:cds:p.I105V (rs1695) (human)
RGD
PMID:23812950
RGD:10755330
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
associated with breast cancer
RGD
PMID:23812950
RGD:10755330
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Il1a
interleukin 1 alpha
treatment
ISO
associated with Carcinoma, Non-Small-Cell Lung
RGD
PMID:7666093
RGD:11051963
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Mdm2
MDM2 proto-oncogene
susceptibility
ISO
associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human)
RGD
PMID:24732641
RGD:11073715
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Pold1
DNA polymerase delta 1, catalytic subunit
treatment
ISO
associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human)
RGD
PMID:28924235
RGD:153323316
NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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RT1-Bb
RT1 class II, locus Bb
ISO
RGD
PMID:27400856
RGD:14928329
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Slco1b2
solute carrier organic anion transporter family member 1B2
susceptibility no_association
ISO
associated with neoplasm;DNA:SNP:rs11045585(human) associated with neoplasm;DNA:SNP: rs11045585(human)
RGD
PMID:18294295 PMID:23188068
RGD:11080980 , RGD:11080999
NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
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Sod2
superoxide dismutase 2
susceptibility
ISO
associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human)
RGD
PMID:20309628
RGD:11035278
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tp53
tumor protein p53
susceptibility
ISO
associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human)
RGD
PMID:24732641
RGD:11073715
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
susceptibility treatment
ISO
associated with neoplasms;DNA:polymorphism, repeat:promoter:-3156G>A, TA (human) associated with Carcinoma, Non-Small-Cell Lung; DNA:repeat:promoter:(TA) associated with Esophageal Neoplasms,Stomach Neoplasm;DNA:repeat:promoter:(TA) associated with Adenocarcinoma, Colorectal;DNA:repeat:promoter:(TA) (rs8175347) associated with Genital Neoplasms, Female;DNA:polymorphisms: :
RGD
PMID:15007088 PMID:16636344 PMID:23783485 PMID:20177420 PMID:24932285
RGD:10768826 , RGD:10769339 , RGD:10769336 , RGD:10769334 , RGD:10768867
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ccl2
C-C motif chemokine ligand 2
ISO
associated with Hematologic Diseases;protein:increased expression:plasma (human)
RGD
PMID:23369970
RGD:11528559
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Hyou1
hypoxia up-regulated 1
ISO
ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality
OMIM ClinVar
PMID:25741868 PMID:27913302 PMID:28492532
NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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Wdr1
WD repeat domain 1
ISO
ClinVar Annotator: match by term: Lazy leukocyte syndrome | ClinVar Annotator: match by term: WDR1 deficiency
OMIM ClinVar
PMID:205284 PMID:25741868 PMID:27557945 PMID:27994071 PMID:28492532 PMID:29751004 More...
NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16950614 PMID:25007187
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Ankrd11
ankyrin repeat domain containing 11
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Ap3b1
adaptor related protein complex 3 subunit beta 1
ISO
RGD
PMID:12125811
RGD:1578409
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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Atp6ap1
ATPase H+ transporting accessory protein 1
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:28492532
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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C1h16orf92
similar to human chromosome 16 open reading frame 92
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 1:181,434,524...181,441,000
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C5
complement C5
ISO IDA
RGD
PMID:10516626 PMID:10188960
RGD:5130180 , RGD:1600665
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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C5ar1
complement C5a receptor 1
IDA
RGD
PMID:10516626
RGD:5130180
NCBI chr 1:76,948,622...76,959,826
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Ccnq
cyclin Q
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:28492532
NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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Cfb
complement factor B
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Chd1l
chromodomain helicase DNA binding protein 1-like
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
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Clpb
caseinolytic mitochondrial matrix peptidase chaperone subunit B
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25597510 PMID:25597511 PMID:25741868 PMID:27891836 PMID:28492532 PMID:34782754 More...
NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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Csf2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:7875148 PMID:11264156 PMID:10832225
RGD:10449510
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:7524159 PMID:7529132 PMID:7543699 PMID:7688884 PMID:9740541 PMID:9774950 PMID:11712802 PMID:12085204 PMID:12884814 PMID:12926135 PMID:15585077 PMID:16761898 PMID:27737899 PMID:10654961 More...
RGD:11039039
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Dpyd
dihydropyrimidine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12562666
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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Elane
elastase, neutrophil expressed
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neutropenia
CTD ClinVar
PMID:9536098 PMID:10581030 PMID:17436313 PMID:17576681 PMID:20049848 PMID:23463630 PMID:25741868 PMID:28492532 PMID:30040071 PMID:32581362 More...
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Ephx1
epoxide hydrolase 1
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
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Fcgr2a
Fc gamma receptor 2A
ISO
DNA:SNP:cds:p.R131H (human)
RGD
PMID:11295474
RGD:11040988
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fcgr2b
Fc gamma receptor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10848805
NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778
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Gfi1
growth factor independent 1 transcriptional repressor
ISO
DNA:mutation:exon:
RGD
PMID:11810106 PMID:22684987
RGD:11040449 , RGD:11040456
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
RGD
PMID:19555437
RGD:10450844
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hax1
HCLS1 associated protein X-1
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:28492532 PMID:32581362
NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
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Hoxd13
homeo box D13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1884014
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Jagn1
jagunal homolog 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129144 PMID:25129145
NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
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Kif11
kinesin family member 11
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766
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Lims2
LIM zinc finger domain containing 2
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr18:23,553,813...23,592,137
Ensembl chr18:23,553,937...23,592,137
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Mki67
marker of proliferation Ki-67
ISO
protein:increased expression:blood, T cell
RGD
PMID:22092365
RGD:6483522
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19391036
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Muc16
mucin 16, cell surface associated
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 8:16,164,531...16,323,126
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Nup98
nucleoporin 98 and 96 precursor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
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Pkp3
plakophilin 3
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 1:196,187,835...196,198,844
Ensembl chr 1:196,187,835...196,198,844
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Polr3c
RNA polymerase III subunit C
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 2:184,246,201...184,262,150
Ensembl chr 2:184,246,204...184,262,208
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Ptafr
platelet-activating factor receptor
treatment
IMP
RGD
PMID:3011900
RGD:10043179
NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
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Rnf128
ring finger protein 128
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868
NCBI chr X:103,183,643...103,298,431
Ensembl chr X:103,183,831...103,298,423
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Rps14
ribosomal protein S14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr18:54,227,854...54,232,638
Ensembl chr18:54,227,854...54,233,166
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:28492532
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Smarcd2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28369036
NCBI chr10:91,193,752...91,202,817
Ensembl chr10:91,193,752...91,204,341
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Stat2
signal transducer and activator of transcription 2
susceptibility
ISO
associated with Chronic Hepatitis C;DNA:SNP:intron 5:g.4757G>T (human)
RGD
PMID:19200137
RGD:41789633
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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Stat3
signal transducer and activator of transcription 3
IAGP
associated with T-cell large granular lymphocyte leukemia
RGD
PMID:22591296
RGD:6892936
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tle2
TLE family member 2, transcriptional corepressor
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 7:8,119,049...8,135,385
Ensembl chr 7:8,119,053...8,134,306
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Tmem63a
transmembrane protein 63a
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr13:92,662,872...92,696,186
Ensembl chr13:92,663,968...92,696,183
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Tnf
tumor necrosis factor
ISO
RGD
PMID:15986200
RGD:1580321
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b
TNF receptor superfamily member 10b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19652058
NCBI chr15:44,839,818...44,867,582
Ensembl chr15:44,840,386...44,867,467
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Tpmt
thiopurine S-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18662289
NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17549067
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Usp3
ubiquitin specific peptidase 3
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111
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Vps16
VPS16 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441
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Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Zc3h3
zinc finger CCCH type containing 3
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 7:107,440,694...107,525,451
Ensembl chr 7:107,440,694...107,525,451
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Gfi1
growth factor independent 1 transcriptional repressor
ISO
ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults
OMIM ClinVar
PMID:11807637 PMID:12778173 PMID:25741868 PMID:28492532
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:22133767
RGD:11038657
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Usb1
U6 snRNA biogenesis phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Poikiloderma with neutropenia
OMIM ClinVar
PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 PMID:20618321 PMID:20817924 PMID:21271650 PMID:21872685 PMID:21967010 PMID:23190533 PMID:25044170 PMID:25741868 PMID:27247962 PMID:27612988 PMID:28492532 PMID:29072891 PMID:29770900 PMID:29982244 PMID:34179048 More...
NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302
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Csf3r
colony stimulating factor 3 receptor
ISO
RGD
PMID:9639496
RGD:10450484
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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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
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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
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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
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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
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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
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Hax1
HCLS1 associated protein X-1
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
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Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
PMID:25129144 PMID:25741868 PMID:28492532 PMID:30044346
NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
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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
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Elane
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
OMIM 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:20049848 PMID:20301705 PMID:20582973 PMID:21425445 PMID:22758217 PMID:23463630 PMID:25741868 PMID:26567890 PMID:28073911 PMID:28492532 PMID:30040071 PMID:30386760 PMID:31248972 PMID:31321910 PMID:32581362 PMID:33318085 More...
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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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
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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
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Gfi1
growth factor independent 1 transcriptional repressor
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
OMIM ClinVar
PMID:11807637 PMID:12778173 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
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Hax1
HCLS1 associated protein X-1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
OMIM ClinVar
PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 PMID:18055975 PMID:18330843 PMID:18337561 PMID:18611981 PMID:19036076 PMID:19118303 PMID:19499579 PMID:20065084 PMID:20182745 PMID:20220065 PMID:22102707 PMID:24482108 PMID:25326635 PMID:25741868 PMID:28102861 PMID:28454995 PMID:28492532 PMID:31589614 PMID:32054657 PMID:32581362 PMID:34426522 More...
NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
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Vps45
vacuolar protein sorting 45 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23599270
NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
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G6pc3
glucose 6 phosphatase catalytic subunit 3
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:19011569 PMID:19118303 PMID:20616219 PMID:20717171 PMID:20799326 PMID:22050868 PMID:22469094 PMID:23180359 PMID:23441086 PMID:23758768 PMID:24033266 PMID:25326635 PMID:25391451 PMID:25491320 PMID:25492228 PMID:25741868 PMID:28492532 More...
NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
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Adam15
ADAM metallopeptidase domain 15
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,754,631...174,765,136
Ensembl chr 2:174,754,633...174,765,113
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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
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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
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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
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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
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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
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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
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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
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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 2:181,997,393...182,001,938
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...183,434,773
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...183,449,207
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 2:173,765,792...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...175,992,854
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
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...175,696,084
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 2:183,089,192...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
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...174,690,306
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 2:178,888,688...178,912,731
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
Gba
glucosylceramidase beta
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 2:174,551,866...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 2:175,951,002...175,971,193
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
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
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 2:178,579,162...178,579,458
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...178,194,965
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 2:182,014,326...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
LOC102552326
late cornified envelope protein 5A-like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
Ensembl chr 2:178,275,020...178,275,469
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
LOC686143
similar to keratinocytes proline-rich protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,481,482...178,482,564
Ensembl chr 2:178,481,373...178,483,424
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...177,559,980
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
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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 2:173,989,491...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 2:174,635,559...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 2:173,518,966...173,521,048
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 2:175,494,355...175,507,276
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...177,490,867
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 2:182,521,131...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 2:179,191,504...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 2:176,075,060...176,078,782
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
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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
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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
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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
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Sprr1b
small proline-rich protein 1B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:178,009,130...178,009,567
Ensembl chr 2:178,009,130...178,009,567
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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
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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
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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
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Sprr2g
small proline rich protein 2G
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
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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
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Sprr4
small proline-rich protein 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
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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
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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
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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
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Tchh
trichohyalin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 2:179,105,246...179,112,014
Ensembl chr 2:179,109,609...179,110,985 Ensembl chr 2:179,109,609...179,110,985
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Vps45
vacuolar protein sorting 45 homolog
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23599270 PMID:23738510 PMID:25640679 PMID:25741868 PMID:26358756 PMID:28492532 PMID:32037586 More...
NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Jagn1
jagunal homolog 1
ISO
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 ClinVar RGD
PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:28492532 PMID:30044346 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
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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
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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
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Csf3r
colony stimulating factor 3 receptor
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
OMIM 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:30348809 PMID:30967555 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
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Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant
ClinVar OMIM
PMID:28972538 PMID:29914977
NCBI chr 6:72,587,582...72,645,154
Ensembl chr 6:72,587,605...72,625,189
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Clpb
caseinolytic mitochondrial matrix peptidase chaperone subunit B
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant
OMIM ClinVar
PMID:28492532 PMID:34115842
NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human) ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23734232 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:12692554 More...
RGD:734860
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Dars1
aspartyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: WHIM syndrome 2
OMIM ClinVar
PMID:24777453 PMID:25741868
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
OMIM ClinVar
PMID:15895080 PMID:16783379 PMID:20301538 PMID:22706301 PMID:24453067 PMID:24766296 PMID:24952648 PMID:28492532 More...
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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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
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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:8595430 PMID:8666397 PMID:8682510 PMID:8743175 PMID:8757563 PMID:8931701 PMID:9126958 PMID:9326235 PMID:9536098 PMID:10202051 PMID:10447259 PMID:10449748 PMID:10653325 PMID:11167787 PMID:11242115 PMID:11298372 PMID:11442475 PMID:12199801 PMID:12727931 PMID:12969986 PMID:14504083 PMID:15284122 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:19817875 PMID:19863535 PMID:20173115 PMID:20232122 PMID:20513746 PMID:20546529 PMID:20959042 PMID:21185603 PMID:21771083 PMID:22038941 PMID:22523910 PMID:23023736 PMID:23033889 PMID:23160469 PMID:23689198 PMID:24210885 PMID:24402308 PMID:24728327 PMID:25091438 PMID:25476427 PMID:25741868 PMID:25792466 PMID:26261240 PMID:28492532 PMID:28600779 PMID:28623282 PMID:28641574 PMID:28748566 PMID:28956125 PMID:29078804 PMID:29991546 PMID:31064749 PMID:31352750 PMID:31965297 PMID:33225392 PMID:34355501 More...
NCBI chr X:14,405,096...14,413,850
Ensembl chr X:14,405,124...14,413,849
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