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: leukocyte disease
Accession: DOID:9500
browse the term
Definition: A hematopoietic system disease that is located_in white blood cells. (DO)
Synonyms: exact_synonym: leukocyte disorder; leukocyte disorders
primary_id: MESH:D007960
xref: ICD10CM:D72.9 ; ICD9CM:288
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Itgb2
integrin beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2880869 PMID:9653089
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Plg
plasminogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30213540
NCBI chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272
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Clpb
ClpB caseinolytic peptidase B
ISO
ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661
NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713
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Anapc15
anaphase promoting complex C subunit 15
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:101,530,508...101,551,056
Ensembl chr 7:101,512,922...101,551,056
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Arap1
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,997,296...101,061,793
Ensembl chr 7:100,997,274...101,061,793
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Arhgef17
Rho guanine nucleotide exchange factor 17
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,518,953...100,581,368
Ensembl chr 7:100,518,959...100,581,314
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Arrb1
arrestin, beta 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,184,356...99,255,979
Ensembl chr 7:99,184,673...99,255,978
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Atg16l2
autophagy related 16 like 2
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,935,521...100,951,474
Ensembl chr 7:100,912,241...100,951,458
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C2cd3
C2 calcium-dependent domain containing 3
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,021,440...100,119,366
Ensembl chr 7:100,021,440...100,119,359
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Chrdl2
chordin-like 2
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,655,611...99,683,935
Ensembl chr 7:99,655,379...99,683,935
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Clpb
ClpB caseinolytic peptidase B
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 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:32219827 PMID:32313153 PMID:32573439 PMID:32820519 PMID:34115842 PMID:34140661 PMID:34782754 PMID:35616898 More...
NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713
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Coa4
cytochrome c oxidase assembly factor 4
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,186,307...100,189,579
Ensembl chr 7:100,186,278...100,189,576
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Dhcr7
7-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:143,376,827...143,402,147
Ensembl chr 7:143,376,882...143,402,147
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Dnajb13
DnaJ heat shock protein family (Hsp40) member B13
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,152,218...100,182,834
Ensembl chr 7:100,150,923...100,164,167
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Fam168a
family with sequence similarity 168, member A
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,355,594...100,490,853
Ensembl chr 7:100,355,842...100,490,863
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Fchsd2
FCH and double SH3 domains 2
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,757,836...100,933,613
Ensembl chr 7:100,742,070...100,933,612
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Folr1
folate receptor alpha
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:101,507,551...101,519,974
Ensembl chr 7:101,507,538...101,519,995
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Folr2
folate receptor beta
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:101,489,195...101,506,397
Ensembl chr 7:101,489,195...101,506,401
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Gdpd5
glycerophosphodiester phosphodiesterase domain containing 5
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,027,976...99,111,082
Ensembl chr 7:99,030,621...99,111,084
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Il18bp
interleukin 18 binding protein
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:101,664,281...101,669,699
Ensembl chr 7:101,664,092...101,667,897
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Inppl1
inositol polyphosphate phosphatase-like 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:101,471,839...101,487,419
Ensembl chr 7:101,471,839...101,487,436
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Kcne3
potassium voltage-gated channel, Isk-related subfamily, gene 3
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,825,714...99,834,076
Ensembl chr 7:99,825,709...99,834,076
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Klhl35
kelch-like 35
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,112,328...99,123,229
Ensembl chr 7:99,115,211...99,123,229
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Krtap5-21
keratin associated protein 5-21
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:141,765,554...141,766,818
Ensembl chr 7:141,765,596...141,766,327
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Lamtor1
late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:101,555,044...101,561,110
Ensembl chr 7:101,555,111...101,575,882
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Lipt2
lipoyl(octanoyl) transferase 2 (putative)
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,808,484...99,810,138
Ensembl chr 7:99,808,484...99,810,572
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Mir139
microRNA 139
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:101,124,583...101,124,650
Ensembl chr 7:101,124,583...101,124,650
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Mir326
microRNA 326
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,201,476...99,201,570
Ensembl chr 7:99,201,476...99,201,570
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Mrpl48
mitochondrial ribosomal protein L48
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,194,986...100,257,508
Ensembl chr 7:100,194,958...100,257,508
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Nadsyn1
NAD synthetase 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:143,349,326...143,376,598
Ensembl chr 7:143,349,321...143,376,586
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Neu3
neuraminidase 3
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,460,646...99,477,579
Ensembl chr 7:99,460,646...99,477,624
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Numa1
nuclear mitotic apparatus protein 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:101,583,169...101,664,166
Ensembl chr 7:101,583,318...101,664,171
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Or2at4
olfactory receptor family 2 subfamily AT member 4
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,384,352...99,385,302
Ensembl chr 7:99,379,480...99,385,606
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P2ry2
purinergic receptor P2Y, G-protein coupled 2
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,645,775...100,661,260
Ensembl chr 7:100,645,775...100,662,073
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P2ry6
pyrimidinergic receptor P2Y, G-protein coupled, 6
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,586,837...100,628,528
Ensembl chr 7:100,586,837...100,623,856
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P4ha3
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,934,637...99,968,908
Ensembl chr 7:99,934,727...99,968,906
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Pde2a
phosphodiesterase 2A, cGMP-stimulated
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:101,070,905...101,162,026
Ensembl chr 7:101,060,093...101,162,026 Ensembl chr 7:101,060,093...101,162,026
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Pgm2l1
phosphoglucomutase 2-like 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,876,471...99,928,079
Ensembl chr 7:99,876,601...99,928,075
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Phox2a
paired-like homeobox 2a
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:101,467,520...101,471,933
Ensembl chr 7:101,467,520...101,471,933
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Plekhb1
pleckstrin homology domain containing, family B (evectins) member 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,291,922...100,311,601
Ensembl chr 7:100,292,099...100,311,621
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Pold3
polymerase (DNA-directed), delta 3, accessory subunit
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,731,317...99,770,709
Ensembl chr 7:99,731,318...99,770,772
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Ppme1
protein phosphatase methylesterase 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,975,944...100,021,103
Ensembl chr 7:99,975,944...100,021,514
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Rab6a
RAB6A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,256,778...100,290,475
Ensembl chr 7:100,256,617...100,290,475
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Relt
RELT tumor necrosis factor receptor
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,495,054...100,512,690
Ensembl chr 7:100,495,054...100,512,653
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Rnf121
ring finger protein 121
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:101,668,344...101,721,712
Ensembl chr 7:101,668,344...101,714,676
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Rnf169
ring finger protein 169
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,569,461...99,630,537
Ensembl chr 7:99,569,461...99,629,655
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Rps3
ribosomal protein S3
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,127,103...99,132,916
Ensembl chr 7:99,127,103...99,132,945
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Serpinh1
serine (or cysteine) peptidase inhibitor, clade H, member 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:98,994,583...99,002,321
Ensembl chr 7:98,994,583...99,002,446
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Slco2b1
solute carrier organic anion transporter family, member 2b1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,307,011...99,360,547
Ensembl chr 7:99,307,011...99,360,547
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Snord15a
small nucleolar RNA, C/D box 15A
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,131,992...99,132,139
Ensembl chr 7:99,131,992...99,132,139
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Spcs2
signal peptidase complex subunit 2 homolog (S. cerevisiae)
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,486,775...99,512,576
Ensembl chr 7:99,486,776...99,512,669
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Stard10
StAR related lipid transfer domain containing 10
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,966,293...100,995,833
Ensembl chr 7:100,966,293...100,995,833
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Tomt
transmembrane O-methyltransferase
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:101,549,010...101,555,572
Ensembl chr 7:101,547,577...101,555,566
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Tpbgl
trophoblast glycoprotein-like
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,273,274...99,276,310
Ensembl chr 7:99,273,289...99,276,310
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Ucp2
uncoupling protein 2 (mitochondrial, proton carrier)
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227
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Ucp3
uncoupling protein 3 (mitochondrial, proton carrier)
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639
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Xrra1
X-ray radiation resistance associated 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
ClinVar
PMID:28492532
NCBI chr 7:99,508,425...99,567,031
Ensembl chr 7:99,508,323...99,567,029
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Clpb
ClpB caseinolytic peptidase B
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
ClinVar
PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597511 PMID:25741868 PMID:28492532 PMID:28687938 PMID:32573439 PMID:34115842 PMID:34782754 PMID:35616898 More...
NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713
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Csf2
colony stimulating factor 2 (granulocyte-macrophage)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8120554 PMID:11732872
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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Csf3
colony stimulating factor 3 (granulocyte)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15999287
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:SNP: :6672G>C (human)
RGD
PMID:20868635
RGD:11041752
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:1331350
RGD:10450883
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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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 chr13:34,148,642...34,172,448
Ensembl chr13:34,148,670...34,172,426
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10635319 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:15696198 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17176792 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18223550 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19011808 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24985406 PMID:25516070 PMID:25707801 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26689875 PMID:26829731 PMID:27095930 PMID:27301863 PMID:27484032 PMID:27713031 PMID:28083621 PMID:28109013 PMID:28216420 PMID:28492532 PMID:28623282 PMID:28747913 PMID:28769923 PMID:28783691 PMID:29107076 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31031743 PMID:31503426 PMID:31632441 PMID:32000930 PMID:32373116 PMID:32445296 PMID:32447396 PMID:32655540 PMID:32670274 PMID:32888943 PMID:33193364 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 PMID:35729272 More...
NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846
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Col9a3
collagen, type IX, alpha 3
ISO
Oculoskeletal dysplasia 1
OMIA
PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 PMID:31415586 PMID:31595625 PMID:31746146 More...
NCBI chr 2:180,239,895...180,263,985
Ensembl chr 2:180,239,583...180,263,982
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Jak1
Janus kinase 1
ISO
ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophilia | ClinVar Annotator: match by term: JAK1-related condition
OMIM ClinVar
PMID:20167706 PMID:24728327 PMID:25356970 PMID:25741868 PMID:28111307 PMID:28492532 PMID:32750333 PMID:35046931 More...
NCBI chr 4:101,009,171...101,122,493
Ensembl chr 4:101,009,564...101,122,479
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Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY
OMIM CTD ClinVar
PMID:742630 PMID:7678602 PMID:11133775 PMID:11433300 PMID:11920901 PMID:16972229 PMID:24446915 PMID:25741868 PMID:33746979 More...
NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479
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Acbd6
acyl-Coenzyme A binding domain containing 6
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:155,433,845...155,564,120
Ensembl chr 1:155,433,866...155,567,076
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Axdnd1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729
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BC034090
cDNA sequence BC034090
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:155,088,217...155,123,504
Ensembl chr 1:155,088,217...155,120,190
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Cacna1e
calcium channel, voltage-dependent, R type, alpha 1E subunit
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:154,266,552...154,760,374
Ensembl chr 1:154,266,477...154,760,247
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Cep350
centrosomal protein 350
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:155,720,710...155,848,976
Ensembl chr 1:155,720,710...155,849,001
G
Dhx9
DExH-box helicase 9
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:153,331,506...153,363,464
Ensembl chr 1:153,331,504...153,363,406
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Fam163a
family with sequence similarity 163, member A
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:155,951,702...156,033,027
Ensembl chr 1:155,951,712...156,032,596
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Glul
glutamate-ammonia ligase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:153,775,692...153,785,469
Ensembl chr 1:153,775,690...153,785,469
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Ier5
immediate early response 5
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:154,972,113...154,975,382
Ensembl chr 1:154,972,107...154,975,382
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Lamc1
laminin, gamma 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:153,094,668...153,208,532
Ensembl chr 1:153,094,668...153,208,532
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Lamc2
laminin, gamma 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193
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Lhx4
LIM homeobox protein 4
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:155,573,777...155,627,481
Ensembl chr 1:155,573,777...155,627,430
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Mr1
major histocompatibility complex, class I-related
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:155,003,620...155,022,560
Ensembl chr 1:155,003,023...155,022,560
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Ncf2
neutrophil cytosolic factor 2
ISO
ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7795241 PMID:8781442 PMID:8879195 PMID:9536098 PMID:10498624 PMID:10598813 PMID:11499676 PMID:16199547 PMID:16937026 PMID:17576681 PMID:18625437 PMID:19624736 PMID:19683193 PMID:19953534 PMID:20167518 PMID:21190454 PMID:21900546 PMID:23264412 PMID:23821607 PMID:24033266 PMID:24931457 PMID:25640679 PMID:25741868 PMID:25741916 PMID:25937994 PMID:26272171 PMID:28035544 PMID:28492532 PMID:28750028 PMID:29073922 PMID:29454792 PMID:30290665 PMID:30470980 PMID:30716179 PMID:32040803 PMID:32081864 PMID:32281309 PMID:32506361 PMID:33629196 PMID:33746979 PMID:34134972 PMID:34547651 More...
NCBI chr 1:152,675,904...152,712,743
Ensembl chr 1:152,675,945...152,712,742
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Nmnat2
nicotinamide nucleotide adenylyltransferase 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:152,830,532...152,995,012
Ensembl chr 1:152,830,744...152,995,007
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Nphs2
nephrosis 2, podocin
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
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Npl
N-acetylneuraminate pyruvate lyase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:153,378,762...153,425,460
Ensembl chr 1:153,378,761...153,425,791
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Qsox1
quiescin Q6 sulfhydryl oxidase 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:155,653,901...155,688,645
Ensembl chr 1:155,651,775...155,688,635
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Rgs16
regulator of G-protein signaling 16
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:153,616,099...153,621,212
Ensembl chr 1:153,616,095...153,621,214
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Rgs8
regulator of G-protein signaling 8
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:153,528,612...153,573,415
Ensembl chr 1:153,528,771...153,576,069
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Rgsl1
regulator of G-protein signaling like 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:153,653,675...153,723,087
Ensembl chr 1:153,655,127...153,719,888
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Rnasel
ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent)
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:153,625,089...153,644,441
Ensembl chr 1:153,625,172...153,639,967
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Shcbp1l
Shc SH2-domain binding protein 1-like
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:153,300,846...153,328,320
Ensembl chr 1:153,300,908...153,328,320
G
Smg7
SMG7 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:152,712,746...152,783,212
Ensembl chr 1:152,712,746...152,778,397
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Stx6
syntaxin 6
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:155,034,374...155,083,405
Ensembl chr 1:155,034,461...155,084,002
G
Tdrd5
tudor domain containing 5
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:156,082,866...156,131,874
Ensembl chr 1:156,082,866...156,131,234
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Teddm1b
transmembrane epididymal protein 1B
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:153,750,089...153,752,622
Ensembl chr 1:153,750,091...153,752,617
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Tor1aip1
torsin A interacting protein 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:155,880,328...155,912,226
Ensembl chr 1:155,880,345...155,912,226
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Tor1aip2
torsin A interacting protein 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:155,911,410...155,944,607
Ensembl chr 1:155,911,149...155,944,607
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Xpr1
xenotropic and polytropic retrovirus receptor 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:155,151,403...155,293,190
Ensembl chr 1:155,151,447...155,293,161
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Zfp648
zinc finger protein 648
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr 1:154,076,933...154,088,955
Ensembl chr 1:154,076,933...154,081,435
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Cimip4
ciliary microtubule inner protein 4
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:28492532
NCBI chr15:78,262,600...78,280,112
Ensembl chr15:78,262,600...78,280,112
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Csf2rb2
colony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage)
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:28492532
NCBI chr15:78,166,707...78,189,921
Ensembl chr15:78,166,707...78,189,921
G
Ncf1
neutrophil cytosolic factor 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:11920901 PMID:24446915 PMID:25741868 PMID:33746979
NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479
G
Ncf4
neutrophil cytosolic factor 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:16880254 PMID:17576681 PMID:19692703 PMID:20167518 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29431110 PMID:29454792 PMID:29969437 PMID:31027832 PMID:34547651 More...
NCBI chr15:78,128,324...78,146,782
Ensembl chr15:78,129,001...78,146,780
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Tst
thiosulfate sulfurtransferase, mitochondrial
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:28492532
NCBI chr15:78,283,756...78,290,065
Ensembl chr15:78,283,756...78,290,107
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Acsf3
acyl-CoA synthetase family member 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619
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Ankrd11
ankyrin repeat domain 11
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016
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Aprt
adenine phosphoribosyl transferase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648
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Banp
BTG3 associated nuclear protein
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997
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Car5a
carbonic anhydrase 5a, mitochondrial
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:122,642,874...122,671,651
Ensembl chr 8:122,642,865...122,671,643
G
Cbfa2t3
CBFA2/RUNX1 translocation partner 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr 8:123,351,875...123,426,069
Ensembl chr 8:123,351,880...123,425,848
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Cdh15
cadherin 15
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,575,113...123,594,136
Ensembl chr 8:123,574,705...123,594,136
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Cdk10
cyclin dependent kinase 10
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,951,580...123,958,995
Ensembl chr 8:123,951,581...123,958,989
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293
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Chmp1a
charged multivesicular body protein 1A
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502
G
Cpne7
copine VII
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921
G
Ctu2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877
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Cyba
cytochrome b-245, alpha polypeptide
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:3571224 PMID:4384563 PMID:8168815 PMID:9445163 PMID:9536098 PMID:10440830 PMID:10759707 PMID:10910929 PMID:10914676 PMID:12073015 PMID:16199547 PMID:16937026 PMID:17576681 PMID:18422995 PMID:18546332 PMID:19292887 PMID:19388116 PMID:19949658 PMID:20167518 PMID:20674832 PMID:21190454 PMID:22336310 PMID:22562447 PMID:22876374 PMID:22924696 PMID:23002911 PMID:23910690 PMID:25741868 PMID:26185101 PMID:26915675 PMID:26936803 PMID:27537055 PMID:27701760 PMID:27980538 PMID:28251166 PMID:28341171 PMID:28492532 PMID:28941186 PMID:29454792 PMID:29560547 PMID:30470980 PMID:30709874 PMID:30716179 PMID:31364312 PMID:31375816 PMID:31456102 PMID:31813112 PMID:32040803 PMID:32081864 PMID:33717137 PMID:34547651 PMID:35140711 PMID:35960392 PMID:36606663 More...
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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Dbndd1
dysbindin domain containing 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:124,231,744...124,245,535
Ensembl chr 8:124,231,457...124,242,202
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Def8
differentially expressed in FDCP 8
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:124,169,725...124,190,009
Ensembl chr 8:124,150,266...124,190,009
G
Dpep1
dipeptidase 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,913,069...123,928,551
Ensembl chr 8:123,912,981...123,928,551
G
Fanca
Fanconi anemia, complementation group A
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
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Galns
galactosamine (N-acetyl)-6-sulfatase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202
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Gas8
growth arrest specific 8
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:124,245,630...124,263,394
Ensembl chr 8:124,245,573...124,263,389
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Il17c
interleukin 17C
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,147,912...123,150,820
Ensembl chr 8:123,148,759...123,150,378
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Jph3
junctophilin 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015
G
Klhdc4
kelch domain containing 4
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:122,523,047...122,556,322
Ensembl chr 8:122,523,052...122,556,308
G
Mc1r
melanocortin 1 receptor
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483
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Mvd
mevalonate (diphospho) decarboxylase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:23910690 PMID:28492532
NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161
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Pabpn1l
poly(A)binding protein nuclear 1-like
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr 8:123,346,210...123,349,474
Ensembl chr 8:123,346,210...123,349,478
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
G
Rnf166
ring finger protein 166
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr 8:123,192,884...123,202,813
Ensembl chr 8:123,192,886...123,202,803
G
Rpl13
ribosomal protein L13
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983
G
Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
G
Snai3
snail family zinc finger 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472
G
Spata2l
spermatogenesis associated 2-like
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,958,994...123,962,997
Ensembl chr 8:123,956,540...123,962,972
G
Spata33
spermatogenesis associated 33
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,939,572...123,948,784
Ensembl chr 8:123,939,571...123,948,785
G
Spire2
spire type actin nucleation factor 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:124,059,452...124,096,257
Ensembl chr 8:124,059,452...124,096,254
G
Tcf25
transcription factor 25 (basic helix-loop-helix)
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:124,097,511...124,130,913
Ensembl chr 8:124,100,492...124,130,574
G
Trappc2l
trafficking protein particle complex 2L
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399
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Tubb3
tubulin, beta 3 class III
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754
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Vps9d1
VPS9 domain containing 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087
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Zc3h18
zinc finger CCCH-type containing 18
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,103,298...123,144,104
Ensembl chr 8:123,103,348...123,144,099
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Zfp26
zinc finger protein 26
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 9:20,338,457...20,371,465
Ensembl chr 9:20,339,745...20,371,458
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Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389
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Zfpm1
zinc finger protein, multitype 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:123,008,595...123,064,601
Ensembl chr 8:123,008,880...123,063,990
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Cybc1
cytochrome b 245 chaperone 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:28492532 PMID:28600779 PMID:30312704 PMID:30361506 More...
NCBI chr11:121,113,414...121,120,135
Ensembl chr11:121,113,414...121,120,148
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Abcg2
ATP binding cassette subfamily G member 2 (Junior blood group)
susceptibility
ISO
DNA:SNPs,haplotype: :rs1481012,rs2231142(human)
RGD
PMID:21918980
RGD:11080977
NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661
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Acoxl
acyl-Coenzyme A oxidase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 2:127,680,717...127,968,172
Ensembl chr 2:127,680,796...127,965,793
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Aicda
activation-induced cytidine deaminase
disease_progression
ISO
RGD
PMID:21133730
RGD:11039455
NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
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Apoe
apolipoprotein E
disease_progression
ISO
RGD
PMID:18784741
RGD:11040549
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Atm
ataxia telangiectasia mutated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17968022
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Bcl11a
BCL11 transcription factor A
ISO
DNA:translocation:5' utr: (human)
RGD
PMID:11719382
RGD:11100004
NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123
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Bcl2
B cell leukemia/lymphoma 2
treatment severity no_association
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:B cell (human) DNA:snp:promoter:g.-938C>A (human)
CTD RGD
PMID:21750559 PMID:23770605 PMID:17296974 PMID:20001236 PMID:17959858 PMID:16960146 More...
RGD:11522735 , RGD:11526110 , RGD:11526105 , RGD:11526104
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Bmf
BCL2 modifying factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 2:118,359,238...118,385,240
Ensembl chr 2:118,359,238...118,380,168
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Braf
Braf transforming gene
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16187918 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17704260 PMID:18039235 PMID:18060073 PMID:18368129 PMID:18413255 PMID:18794803 PMID:19206169 PMID:19376813 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21062266 PMID:21129611 PMID:21639808 PMID:22048237 PMID:22310681 PMID:22495831 PMID:22663011 PMID:22972589 PMID:23352452 PMID:23680146 PMID:24033266 PMID:24451042 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29453417 PMID:29595366 More...
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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Btk
Bruton agammaglobulinemia tyrosine kinase
treatment
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar RGD
PMID:24869598 PMID:25741868 PMID:28492532 PMID:23045577
RGD:11040699
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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Cbl
Casitas B-lineage lymphoma
severity
ISO
mRNA,protein:increased expression:CD5+ B cell: DNA:hypophosphorylation:CD5+ B cell:
RGD
PMID:17804547 PMID:17804547
RGD:11038803 , RGD:11038803
NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346
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Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr16:27,205,815...27,270,968
Ensembl chr16:27,207,619...27,270,968
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Cd40
CD40 antigen
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
IMP
mouse-human chimeric gene in human
RGD
PMID:20882050
RGD:11352235
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cd5
CD5 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr19:10,695,471...10,716,390
Ensembl chr19:10,694,480...10,716,366
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Cd79b
CD79B antigen
ISO
protein:decreased expression:B lymphocyte, cell surface (human) DNA:polymorphism:multiple (human) mRNA, protein:splice variants, alternative forms:exon 3 (human)
RGD
PMID:9269755 PMID:10552962 PMID:10090943
RGD:11250403 , RGD:151665202 , RGD:151665190
NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588
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Cd86
CD86 antigen
severity
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25179679
RGD:11354969
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Cpeb1
cytoplasmic polyadenylation element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 7:80,996,774...81,105,207
Ensembl chr 7:80,996,774...81,105,213
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
protein:increased expression:T cell
RGD
PMID:16094420 PMID:15914560
RGD:11344923 , RGD:11352246
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Dkc1
dyskeratosis congenita 1, dyskerin
ISO
RGD
PMID:18077792
RGD:11251735
NCBI chr X:74,139,460...74,153,382
Ensembl chr X:74,139,460...74,153,383
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Dnmt3b
DNA methyltransferase 3B
ISO
mRNA:decreased expression: B cell
RGD
PMID:15467427
RGD:9589146
NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650
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Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
severity
ISO
DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:22739018 PMID:19484764
RGD:11252203 , RGD:11252204
NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
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Farp2
FERM, RhoGEF and pleckstrin domain protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 1:93,439,826...93,549,698
Ensembl chr 1:93,439,801...93,549,698
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Fas
Fas cell surface death receptor
disease_progression
ISO
RGD
PMID:12901972
RGD:11049461
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fbxw7
F-box and WD-40 domain protein 7
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
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Fcgr4
Fc receptor, IgG, low affinity IV
no_association
ISO
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:14563637
RGD:11352260
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Gnas
GNAS complex locus
disease_progression
ISO
DNA:polymorphism:393T>C (human)
RGD
PMID:17020971
RGD:1601379
NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
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Hras
Harvey rat sarcoma virus oncogene
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Icam1
intercellular adhesion molecule 1
severity
ISO
RGD
PMID:7658704
RGD:11354983
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifng
interferon gamma
susceptibility
ISO
DNA:polymorphism: :847A>T(human)
RGD
PMID:19757192
RGD:10755703
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il10
interleukin 10
disease_progression no_association
ISO
protein:increased expression:serum DNA:SNPs: :multiple DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
RGD
PMID:22945689 PMID:10638947 PMID:19573080 PMID:19573080
RGD:11041895 , RGD:11049174 , RGD:11049165 , RGD:11049165
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:19074885
RGD:11051968
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1b
interleukin 1 beta
severity
ISO
DNA:SNP:promoter:-511C>T (human) protein:decreased expression:plasma:
RGD
PMID:18271063 PMID:10870116
RGD:11051967 , RGD:11522755
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:decreased expression:plasma:
RGD
PMID:10870116
RGD:11522755
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il6
interleukin 6
ISO
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18006695 PMID:10870116
RGD:11522755
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Irf4
interferon regulatory factor 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18758461 PMID:12393648 PMID:12079517
RGD:11526160 , RGD:11530024
NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959
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Itga4
integrin alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21093051
NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 More...
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lef1
lymphoid enhancer binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 3:130,903,972...131,018,006
Ensembl chr 3:130,904,120...131,018,005
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
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Mir143
microRNA 143
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:61,782,267...61,782,329
Ensembl chr18:61,782,267...61,782,329
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Mir145a
microRNA 145a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965
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Ms4a1
membrane-spanning 4-domains, subfamily A, member 1
ISO
RGD
PMID:19911856
RGD:2316994
NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16706930
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Myd88
myeloid differentiation primary response gene 88
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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Nras
neuroblastoma ras oncogene
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
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P2rx7
purinergic receptor P2X, ligand-gated ion channel, 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11003599
NCBI chr 5:122,781,990...122,830,399
Ensembl chr 5:122,781,974...122,829,495
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Pecam1
platelet/endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:B cell (human)
RGD
PMID:12673718
RGD:11541127
NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
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Plcg2
phospholipase C, gamma 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
CTD ClinVar
PMID:24869598 PMID:27542411 PMID:28492532
NCBI chr 8:118,225,014...118,361,881
Ensembl chr 8:118,225,030...118,361,881
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Pmaip1
phorbol-12-myristate-13-acetate-induced protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr18:66,591,675...66,598,629
Ensembl chr18:66,591,604...66,598,636
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Polb
polymerase (DNA directed), beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 8:23,118,135...23,143,482
Ensembl chr 8:23,118,142...23,143,451
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Ppp2r5c
protein phosphatase 2, regulatory subunit B', gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr12:110,413,532...110,549,509
Ensembl chr12:110,413,554...110,549,496
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Pramex1
PRAME like, X-linked 1
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454
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Prkd2
protein kinase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr 7:16,576,827...16,604,386
Ensembl chr 7:16,576,827...16,604,389
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16314473
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15928039 PMID:16358218 PMID:17177198 PMID:17972951 PMID:18759865 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26918529 PMID:27069254 PMID:28074573 PMID:28098151 PMID:28492532 PMID:30868567 PMID:30896080 More...
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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Qpct
glutaminyl-peptide cyclotransferase (glutaminyl cyclase)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr17:79,359,335...79,397,807
Ensembl chr17:79,359,335...79,397,807
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Rbl2
RB transcriptional corepressor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr 8:91,796,685...91,850,472
Ensembl chr 8:91,796,685...91,850,472
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Sf3b1
splicing factor 3b, subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
CTD ClinVar
PMID:22158541 PMID:23634996 PMID:25741868 PMID:26619011
NCBI chr 1:55,024,328...55,066,660
Ensembl chr 1:55,024,328...55,066,640
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Sf3b2
splicing factor 3b, subunit 2
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:26619011
NCBI chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483
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Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:17344921
RGD:11038662
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
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Thbd
thrombomodulin
ISO
RGD
PMID:21812019
RGD:5685033
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
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Tnf
tumor necrosis factor
disease_progression
ISO
protein:increased expression:bone marrow, blood, lymphocyte
RGD
PMID:12010662 PMID:22945689
RGD:10449463 , RGD:11041895
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf10b
tumor necrosis factor receptor superfamily, member 10b
susceptibility
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) DNA:SNP: :1322A>G (human)
RGD
PMID:16217763 PMID:15531454
RGD:11038717 , RGD:11038718
NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860
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Tnfrsf11a
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709
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Tnfsf11
tumor necrosis factor (ligand) superfamily, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr14:78,514,886...78,545,483
Ensembl chr14:78,514,885...78,545,483
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Tnfsf13
tumor necrosis factor (ligand) superfamily, member 13
ISO
protein:increased expression:serum
RGD
PMID:15488762
RGD:1549466
NCBI chr11:69,573,403...69,576,380
Ensembl chr11:69,573,672...69,576,610
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Topbp1
topoisomerase (DNA) II binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 9:103,182,351...103,227,627
Ensembl chr 9:103,182,414...103,227,627
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Trp53
transformation related protein 53
disease_progression
ISO
DNA:deletion: : ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:253702 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2531845 PMID:2554494 PMID:7651740 PMID:7732013 PMID:7737263 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8718514 PMID:8825920 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9704930 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16337994 PMID:16401470 PMID:16439677 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18307025 PMID:18511570 PMID:18685109 PMID:18937320 PMID:19101993 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22484423 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23263379 PMID:23265383 PMID:23484829 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28160093 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30709875 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31168460 PMID:31296311 PMID:31300551 PMID:31494577 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32126783 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32817165 PMID:32906206 PMID:32959997 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35127508 PMID:36988593 PMID:10867151 More...
RGD:11075074
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12446453
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Xpo1
exportin 1
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:26619011
NCBI chr11:23,205,768...23,248,250
Ensembl chr11:23,206,055...23,248,249
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Xrcc1
X-ray repair complementing defective repair in Chinese hamster cells 1
severity no_association
ISO
DNA:SNP: :p.R399Q (rs25487) (human) DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
RGD
PMID:19484764 PMID:19484764
RGD:11252204 , RGD:11252204
NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
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Card11
caspase recruitment domain family, member 11
ISO
ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:18323416 PMID:23027925 PMID:23129749 PMID:23149938 PMID:24033266 PMID:24728327 PMID:25352053 PMID:25741868 PMID:25930198 PMID:26861442 PMID:28492532 PMID:28824638 PMID:29472930 PMID:33202260 More...
NCBI chr 5:140,858,109...140,986,398
Ensembl chr 5:140,858,745...140,986,337
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Abcg2
ATP binding cassette subfamily G member 2 (Junior blood group)
susceptibility
ISO
DNA:SNP: :rs6857600(human)
RGD
PMID:21918980
RGD:11080977
NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661
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Aicda
activation-induced cytidine deaminase
IMP
RGD
PMID:17251349
RGD:11039449
NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
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Bcl2l2
BCL2-like 2
disease_progression
IMP
RGD
PMID:28094768
RGD:14394511
NCBI chr14:55,120,900...55,125,691
Ensembl chr14:55,120,834...55,125,691
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Bcl6
B cell leukemia/lymphoma 6
ISO
diffuse large B-cell lymphoma
RGD
PMID:11821949
RGD:1600111
NCBI chr16:23,780,058...23,807,602
Ensembl chr16:23,783,802...23,807,602
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Brd2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
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Btk
Bruton agammaglobulinemia tyrosine kinase
treatment
IMP ISO
human cell in a mouse model
RGD
PMID:25662332 PMID:28348046
RGD:11040764 , RGD:124713554
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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Cbx7
chromobox 7
IMP
RGD
PMID:17374722
RGD:11352707
NCBI chr15:79,800,005...79,855,344
Ensembl chr15:79,800,008...79,855,320
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Cd40
CD40 antigen
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Csf2
colony stimulating factor 2 (granulocyte-macrophage)
treatment
IDA
RGD
PMID:8469286
RGD:10450244
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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Csf3
colony stimulating factor 3 (granulocyte)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11042651
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Eaf2
ELL associated factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20564326
NCBI chr16:36,613,246...36,695,275
Ensembl chr16:36,613,246...36,695,365
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
severity treatment
IMP ISO IAGP
MouseDO RGD
PMID:23982173 PMID:29456795
RGD:10755356 , RGD:126781726
NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275
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Il21r
interleukin 21 receptor
ISO
diffuse large B-cell lymphoma
RGD
PMID:11821949
RGD:1600111
NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
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Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24837469
NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Kat5
K(lysine) acetyltransferase 5
severity
IMP
RGD
PMID:17728759
RGD:9588481
NCBI chr19:5,653,042...5,661,584
Ensembl chr19:5,653,042...5,660,265
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Lgals1
lectin, galactose binding, soluble 1
ISO
protein:increased expression:primary tumor (rat)
RGD
PMID:16733672
RGD:2316550
NCBI chr15:78,810,925...78,814,665
Ensembl chr15:78,810,925...78,814,665
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Mir143
microRNA 143
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:61,782,267...61,782,329
Ensembl chr18:61,782,267...61,782,329
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Mir145a
microRNA 145a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965
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Nras
neuroblastoma ras oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14633661
NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14654083
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531327
NCBI chr 2:167,772,670...167,821,305
Ensembl chr 2:167,773,977...167,821,305
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Stat5a
signal transducer and activator of transcription 5A
IMP
RGD
PMID:27018255
RGD:151665817
NCBI chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Tnfsf9
tumor necrosis factor (ligand) superfamily, member 9
IDA
RGD
PMID:10202049
RGD:2317349
NCBI chr17:57,412,113...57,414,757
Ensembl chr17:57,412,325...57,414,757
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Abl1
c-abl oncogene 1, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:21481795
RGD:11038814
NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239
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Ahr
aryl-hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Akr1c18
aldo-keto reductase family 1, member C18
treatment
ISO
RGD
PMID:26116659
RGD:11541128
NCBI chr13:4,182,614...4,200,645
Ensembl chr13:4,182,614...4,200,653
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Atf7ip
activating transcription factor 7 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chr 6:136,495,787...136,587,848
Ensembl chr 6:136,483,165...136,587,860
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Bcl2l1
BCL2-like 1
severity
IMP
RGD
PMID:18216295
RGD:11531108
NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648
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Bcr
BCR activator of RhoGEF and GTPase
IMP
BCR/ABL fusion
RGD
PMID:9310467
RGD:41404633
NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753
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Brd2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24154679
NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581
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Ccnd1
cyclin D1
IEP
mRNA:increased expression:B cell (mouse)
RGD
PMID:23169640
RGD:11353783
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Cdkn2a
cyclin dependent kinase inhibitor 2A
treatment susceptibility
IMP ISO
DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human)
RGD
PMID:16618932 PMID:26104880 PMID:21622646
RGD:11251751 , RGD:11057958 , RGD:11251772
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Crlf2
cytokine receptor-like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chr 5:109,702,575...109,707,301
Ensembl chr 5:109,702,575...109,706,859
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Cyp3a13
cytochrome P450, family 3, subfamily a, polypeptide 13
treatment
ISO
DNA:polymorphisms: :
RGD
PMID:21225912
RGD:11353807
NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881
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Duxbl1
double homeobox B-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27019113
NCBI chr14:25,979,011...25,990,590
Ensembl chr14:25,979,001...25,990,512
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Etv6
ets variant 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15217836 PMID:24413735 PMID:25807284
NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121
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F13a1
coagulation factor XIII, A1 subunit
ISO
protein:increased expression:B lymphoblast:
RGD
PMID:16894461
RGD:11041855
NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220
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F3
coagulation factor III
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
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Fh1
fumarate hydratase 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:175,428,944...175,453,201
Ensembl chr 1:175,427,940...175,453,201
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Flt3
FMS-like tyrosine kinase 3
ISO
mRNA,protein:increased expression:bone marrow:
RGD
PMID:8562934
RGD:11049466
NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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Ikzf1
IKAROS family zinc finger 1
disease_progression
ISO
DNA:mutations: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24141364 PMID:22699455
RGD:11075072
NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926
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Il5
interleukin 5
IMP
RGD
PMID:15368290
RGD:7241068
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Irf4
interferon regulatory factor 4
IMP
RGD
PMID:25006123 PMID:20585039 PMID:21818355
RGD:11526159 , RGD:11530030 , RGD:11530020
NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959
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Irf8
interferon regulatory factor 8
IMP
RGD
PMID:20585039
RGD:11530030
NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433
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Isx
intestine specific homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 8:75,599,326...75,620,134
Ensembl chr 8:75,599,801...75,620,134
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LOC107983946
Wt1 promoter region
ISO
ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia
ClinVar
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 More...
NCBI chr 2:104,956,361...104,957,127
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Mga
MAX gene associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chr 2:119,702,974...119,800,610
Ensembl chr 2:119,727,709...119,800,062
G
Myb
myeloblastosis oncogene
disease_progression
ISO
mRNA:splice variants:cds:
RGD
PMID:21853052
RGD:11532669
NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883
G
Myc
myelocytomatosis oncogene
IMP
RGD
PMID:22120021
RGD:7207416
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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Pax5
paired box 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24013638 PMID:30643249
NCBI chr 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
treatment
IDA
RGD
PMID:22447844
RGD:11075097
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Runx1
runt related transcription factor 1
onset
ISO
DNA:amplification CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15217836 PMID:24413735 PMID:21822204
RGD:6482828
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Stat5a
signal transducer and activator of transcription 5A
ISO
protein:increased phosphorylation:bone marrow (human)
RGD
PMID:27018255
RGD:151665817
NCBI chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532
NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481
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Tdo2
tryptophan 2,3-dioxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 3:81,865,719...81,883,035
Ensembl chr 3:81,864,397...81,883,509
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119
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Tnfsf13
tumor necrosis factor (ligand) superfamily, member 13
ISO
RGD
PMID:15488762
RGD:1549466
NCBI chr11:69,573,403...69,576,380
Ensembl chr11:69,573,672...69,576,610
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Trp53
transformation related protein 53
disease_progression
ISO
DNA:mutations: :
RGD
PMID:22699455
RGD:11075072
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia
ClinVar
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 More...
NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1
ClinVar
PMID:22658618 PMID:25741868 PMID:28492532
NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320
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Bmpr1a
bone morphogenetic protein receptor, type 1A
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:25741868 PMID:28492532 PMID:30093976
NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:25741868 PMID:28492532 PMID:33471991
NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Recql4
RecQ protein-like 4
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 PMID:15964893 PMID:18716613 PMID:20113479 PMID:25741868 PMID:28492532 PMID:29367366 PMID:31829210 More...
NCBI chr15:76,587,753...76,594,820
Ensembl chr15:76,587,753...76,594,748
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Cbl
Casitas B-lineage lymphoma
ISO
ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346
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Sdha
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
ISO
ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399
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A4galt
alpha 1,4-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11482875
NCBI chr15:83,110,923...83,135,930
Ensembl chr15:83,110,923...83,135,975
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
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Bbc3
BCL2 binding component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18573879
NCBI chr 7:16,042,307...16,052,130
Ensembl chr 7:16,042,318...16,052,130
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Bcl2l2
BCL2-like 2
ISO
mRNA:increased expression:lymph node
RGD
PMID:28094768
RGD:14394511
NCBI chr14:55,120,900...55,125,691
Ensembl chr14:55,120,834...55,125,691
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Brca1
breast cancer 1, early onset
ISO
ClinVar Annotator: match by term: Burkitt lymphoma
ClinVar
PMID:17262179 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31911673 PMID:33471991 PMID:36881271 More...
NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781
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Btk
Bruton agammaglobulinemia tyrosine kinase
ameliorates treatment
ISO
Human cell line in a mouse model mRNA:increased expression:multiple (human)
RGD
PMID:28474336 PMID:30546948
RGD:124713565 , RGD:124715474
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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Calr
calreticulin
treatment
ISO
human cells and recombinant protein in a mouse model human cell line and recombinant protein in a mouse model
RGD
PMID:9858521 PMID:10961892
RGD:150521687 , RGD:150521702
NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563
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Cct6b
chaperonin containing TCP1 subunit 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr11:82,603,938...82,655,154
Ensembl chr11:82,610,076...82,655,147
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Cd40
CD40 antigen
treatment
ISO
human cell line in a mouse model
RGD
PMID:9192773
RGD:11520790
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd79b
CD79B antigen
treatment
ISO
human cells in mouse model
RGD
PMID:17374736
RGD:151665154
NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588
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Ftcd
formiminotransferase cyclodeaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr10:76,411,482...76,426,172
Ensembl chr10:76,411,482...76,426,172
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Gna13
guanine nucleotide binding protein, alpha 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr11:109,253,620...109,292,195
Ensembl chr11:109,253,657...109,292,195
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Id3
inhibitor of DNA binding 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143595 PMID:23143597
NCBI chr 4:135,871,133...135,872,703
Ensembl chr 4:135,870,808...135,873,066
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Mir21a
microRNA 21a
treatment
ISO
RGD
PMID:27991481
RGD:41404643
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Mir23b
microRNA 23b
treatment
ISO
RGD
PMID:27991481
RGD:41404643
NCBI chr13:63,448,298...63,448,371
Ensembl chr13:63,448,298...63,448,371
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Mllt11
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31587870
NCBI chr 3:95,125,852...95,139,486
Ensembl chr 3:95,126,446...95,139,482
G
Myc
myelocytomatosis oncogene
IAGP ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Burkitt lymphoma OMIM:113970 DNA:mutations:exons:multiple (human)
CTD ClinVar MouseDO OMIM RGD
PMID:8220424 PMID:25157968 PMID:27993330 PMID:8220424 PMID:8397370
RGD:1601453 , RGD:10059619
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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Pbx1
pre B cell leukemia homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chr 1:167,946,933...168,259,898
Ensembl chr 1:167,946,933...168,259,839
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Pcx
pyruvate carboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr19:4,560,500...4,671,780
Ensembl chr19:4,560,500...4,671,780
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
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Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
G
Sall3
spalt like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr18:81,010,204...81,030,236
Ensembl chr18:81,009,591...81,029,986
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
G
Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:alveolar system (human)
RGD
PMID:11488333
RGD:11528564
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:15956791
RGD:5135443
NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:15956791
RGD:5135443
NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
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Jak3
Janus kinase 3
ISO
DNA:missense mutation:exon:p.C1066R (c.3196T>C) (human)
RGD
PMID:25205547
RGD:11531127
NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Ap3b1
adaptor-related protein complex 3, beta 1 subunit
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:31898847
NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825
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B3galnt2
UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr13:14,129,059...14,173,688
Ensembl chr13:14,129,054...14,173,688
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Bloc1s6
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:122,580,425...122,591,407
Ensembl chr 2:122,580,423...122,591,395
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Card14
caspase recruitment domain family, member 14
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:22521419 PMID:24033266 PMID:24999592 PMID:25734815 PMID:25741868 PMID:25989471 PMID:26203641 PMID:26255310 PMID:26358359 PMID:28492532 PMID:28887889 PMID:30018619 PMID:30387497 PMID:31971603 PMID:36174714 PMID:36221432 More...
NCBI chr11:119,197,923...119,236,205
Ensembl chr11:119,198,594...119,236,201
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Cd27
CD27 antigen
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:125,209,583...125,214,014
Ensembl chr 6:125,209,585...125,213,973
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Elane
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 PMID:25703294 PMID:25741868 PMID:27854218 PMID:28492532 PMID:35047849 More...
NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Gng4
guanine nucleotide binding protein (G protein), gamma 4
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr13:13,958,644...14,002,480
Ensembl chr13:13,958,644...14,002,481
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Il1rn
interleukin 1 receptor antagonist
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:12837270 PMID:16519819 PMID:19729864 PMID:20842532 PMID:21279638 PMID:22032624 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:28236224 PMID:28492532 More...
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il36rn
interleukin 36 receptor antagonist
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:6147717 PMID:9536098 PMID:17576681 PMID:21839423 PMID:22428995 PMID:22903787 PMID:23303454 PMID:23428889 PMID:23648549 PMID:23698098 PMID:23792462 PMID:23863864 PMID:24033266 PMID:24979538 PMID:25212972 PMID:25427108 PMID:25458002 PMID:25468355 PMID:25741868 PMID:25989471 PMID:26147717 PMID:26589685 PMID:26676204 PMID:27220475 PMID:27388993 PMID:27542682 PMID:27900482 PMID:28063630 PMID:28492532 PMID:28887889 PMID:29030861 PMID:30036598 PMID:30609409 PMID:32301172 More...
NCBI chr 2:24,166,966...24,172,444
Ensembl chr 2:24,166,966...24,173,438
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Itk
IL2 inducible T cell kinase
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532
NCBI chr11:46,215,975...46,280,342
Ensembl chr11:46,215,977...46,280,342
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Lpin2
lipin 2
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:2809904 PMID:9536098 PMID:10969284 PMID:15994876 PMID:17576681 PMID:18409191 PMID:19717560 PMID:20032092 PMID:20301735 PMID:20645851 PMID:24033266 PMID:25741868 PMID:26386126 PMID:26639818 PMID:27860302 PMID:28492532 PMID:33670882 More...
NCBI chr17:71,490,527...71,556,813
Ensembl chr17:71,489,555...71,556,812
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Lyst
lysosomal trafficking regulator
ISO IAGP
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition CTD Direct Evidence: marker/mechanism OMIM:214500
OMIM ClinVar CTD MouseDO
PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 PMID:9536098 PMID:10482950 PMID:10648412 PMID:11857544 PMID:15896657 PMID:16199547 PMID:17554367 PMID:17576681 PMID:18485661 PMID:19650863 PMID:19763152 PMID:20301751 PMID:20307669 PMID:20368792 PMID:21878672 PMID:22406018 PMID:22883044 PMID:23436631 PMID:23521865 PMID:24033266 PMID:24072239 PMID:24112114 PMID:25047945 PMID:25312756 PMID:25640679 PMID:25741868 PMID:26193622 PMID:26597256 PMID:26684649 PMID:26915675 PMID:27484032 PMID:27577878 PMID:27669550 PMID:27679996 PMID:27781387 PMID:27872624 PMID:28145517 PMID:28193763 PMID:28337550 PMID:28458669 PMID:28492532 PMID:28748566 PMID:29482223 PMID:29519750 PMID:29652989 PMID:30383631 PMID:30815890 PMID:30819905 PMID:30899265 PMID:31245861 PMID:31664448 PMID:31906877 PMID:32099069 PMID:32531373 PMID:32542393 PMID:32638196 PMID:32935436 PMID:33179747 PMID:33217554 PMID:34083498 PMID:36203604 More...
NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388
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Mefv
Mediterranean fever
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9527614 PMID:9668175 PMID:9715731 PMID:9781020 PMID:10024914 PMID:10090880 PMID:10234504 PMID:10364520 PMID:10447272 PMID:10611954 PMID:10612841 PMID:10737992 PMID:10737995 PMID:10787449 PMID:10787450 PMID:10842288 PMID:10852276 PMID:10854105 PMID:10854115 PMID:10879615 PMID:10905662 PMID:10980540 PMID:11017802 PMID:11175300 PMID:11464238 PMID:11464248 PMID:11468188 PMID:11470495 PMID:11588211 PMID:11903360 PMID:11938447 PMID:11977178 PMID:12064853 PMID:12105243 PMID:12124996 PMID:12180071 PMID:12401847 PMID:12687559 PMID:12908875 PMID:12929299 PMID:12955725 PMID:14578331 PMID:14578333 PMID:14612366 PMID:14679589 PMID:14727057 PMID:15018633 PMID:15020340 PMID:15024140 PMID:15024744 PMID:15146467 PMID:15168590 PMID:15458961 PMID:15475974 PMID:15502081 PMID:15643295 PMID:15717684 PMID:15720244 PMID:15745878 PMID:15805719 PMID:15942916 PMID:15951859 PMID:16100353 PMID:16179998 PMID:16255051 PMID:16378925 PMID:16403826 PMID:16439335 PMID:16439437 PMID:16498449 PMID:16523438 PMID:16614989 PMID:16627024 PMID:16730661 PMID:16785446 PMID:16802374 PMID:16889173 PMID:17276496 PMID:17329916 PMID:17331080 PMID:17489852 PMID:17566872 PMID:17665427 PMID:17665448 PMID:17934081 PMID:18097735 PMID:18307385 PMID:18328141 PMID:18353061 PMID:18386244 PMID:18409191 PMID:18496034 PMID:18609258 PMID:18662100 PMID:18691160 PMID:19026119 PMID:19151977 PMID:19253030 PMID:19302049 PMID:19449169 PMID:19466506 PMID:19531756 PMID:19762364 PMID:19777236 PMID:19784369 PMID:19786432 PMID:19790133 PMID:19820229 PMID:19845843 PMID:19863562 PMID:19877056 PMID:19929404 PMID:19934082 PMID:19934083 PMID:19934105 PMID:19967574 PMID:20008920 PMID:20008924 PMID:20041150 PMID:20044784 PMID:20051664 PMID:20165923 PMID:20177433 PMID:20301405 PMID:20437121 PMID:20483145 PMID:20485448 PMID:20525738 PMID:20534143 PMID:20602240 PMID:20645115 PMID:20669279 PMID:20688806 PMID:20721559 PMID:20828792 PMID:20890251 PMID:20981092 PMID:21153919 PMID:21228398 PMID:21246368 PMID:21290976 PMID:21358337 PMID:21413889 PMID:21520333 PMID:21562927 PMID:21598804 PMID:21598806 PMID:21600797 PMID:21623663 PMID:21727933 PMID:21978701 PMID:21995303 PMID:22019805 PMID:22037353 PMID:22190688 PMID:22207183 PMID:22261745 PMID:22337722 PMID:22451026 PMID:22467954 PMID:22505824 PMID:22532615 PMID:22566169 PMID:22580583 PMID:22614345 PMID:22661645 PMID:22722202 PMID:22810696 PMID:22903357 PMID:22906030 PMID:22934972 PMID:22975760 PMID:22995991 PMID:23006543 PMID:23010357 PMID:23031807 PMID:23038988 PMID:23070486 PMID:23137073 PMID:23155201 PMID:23164758 PMID:23166428 PMID:23206577 PMID:23217869 PMID:23291246 PMID:23302539 PMID:23325590 PMID:23334425 PMID:23400211 PMID:23437051 PMID:23463692 PMID:23505238 PMID:23505242 PMID:23524442 PMID:23588594 PMID:23592051 PMID:23633568 PMID:23716950 PMID:23800337 PMID:23844200 PMID:23847694 PMID:23867542 PMID:23907647 PMID:23973724 PMID:23981758 PMID:24033266 PMID:24071932 PMID:24082139 PMID:24117178 PMID:24123366 PMID:24158885 PMID:24233262 PMID:24251727 PMID:24261781 PMID:24263150 PMID:24289199 PMID:24318677 PMID:24369413 PMID:24381109 PMID:24383976 PMID:24433404 PMID:24469716 PMID:24702757 PMID:24797171 PMID:24862656 PMID:24929125 PMID:24965843 PMID:25006247 PMID:25073670 PMID:25088882 PMID:25203624 PMID:25261100 PMID:25286988 PMID:25393764 PMID:25615955 PMID:25626331 PMID:25648235 PMID:25671271 PMID:25703702 PMID:25708585 PMID:25741868 PMID:25741905 PMID:25760918 PMID:25793047 PMID:25810876 PMID:25821352 PMID:25866490 PMID:25959027 PMID:25974247 PMID:26003477 PMID:26005881 PMID:26027984 PMID:26028444 PMID:26078663 PMID:26131005 PMID:26215181 PMID:26247045 PMID:26299986 PMID:26351556 PMID:26360812 PMID:26399837 PMID:26413094 PMID:26467025 PMID:26510601 PMID:26537665 PMID:26554556 PMID:26585190 PMID:26620106 PMID:26690517 PMID:26722138 PMID:26759267 PMID:26843738 PMID:26933204 PMID:27030597 PMID:27100444 PMID:27333294 PMID:27364639 PMID:27457448 PMID:27473114 PMID:27513391 PMID:27535533 PMID:27621632 PMID:27659338 PMID:27733942 PMID:27838405 PMID:27884173 PMID:27956278 PMID:27980538 PMID:27994174 PMID:28001092 PMID:28211254 PMID:28302131 PMID:28386255 PMID:28421071 PMID:28483595 PMID:28492532 PMID:28573371 PMID:28590056 PMID:28597968 PMID:28678379 PMID:28750028 PMID:28863210 PMID:28927886 PMID:28943464 PMID:29040788 PMID:29047407 PMID:29080837 PMID:29148036 PMID:29159471 PMID:29178647 PMID:29260407 PMID:29314707 PMID:29363386 PMID:29379228 PMID:29526930 PMID:29543225 PMID:29599418 PMID:29735907 PMID:29756710 PMID:29808155 PMID:29927949 PMID:30171907 PMID:30235678 PMID:30355575 PMID:30407166 PMID:30409984 PMID:30476289 PMID:30487145 PMID:30513227 PMID:30546872 PMID:30686512 PMID:30698071 PMID:30783801 PMID:30887796 PMID:30915208 PMID:30996171 PMID:31088470 PMID:31204589 PMID:31264586 PMID:31411330 PMID:31512232 PMID:31531243 PMID:31598713 PMID:31620089 PMID:31646357 PMID:31693653 PMID:31989427 PMID:32082075 PMID:32199921 PMID:32312770 PMID:32398039 PMID:32401353 PMID:32447396 PMID:32461654 PMID:32716837 PMID:32741030 PMID:32818295 PMID:32824452 PMID:32853466 PMID:32909274 PMID:33079202 PMID:33223529 PMID:33331265 PMID:33440462 PMID:33497256 PMID:33560333 PMID:33715276 PMID:33726481 PMID:33733382 PMID:33738724 PMID:33747591 PMID:34120219 PMID:34328662 PMID:34426522 PMID:34606655 PMID:34612144 PMID:34665572 PMID:34739572 PMID:34880353 PMID:34918114 PMID:35061158 PMID:35098403 PMID:35156637 PMID:35190906 PMID:35298548 PMID:35358658 PMID:35490273 PMID:35780723 More...
NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
G
Mmab
methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human)
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 5:114,569,095...114,582,134
Ensembl chr 5:114,569,095...114,582,121
G
Mvk
mevalonate kinase
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:1377680 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313769 PMID:12444096 PMID:12634869 PMID:15149516 PMID:15188372 PMID:15536479 PMID:16234278 PMID:16255052 PMID:16835861 PMID:17105862 PMID:18414213 PMID:18839211 PMID:19011501 PMID:20194276 PMID:21228398 PMID:21425920 PMID:21630610 PMID:22038276 PMID:22246419 PMID:23006543 PMID:23692791 PMID:23834120 PMID:23979089 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24561416 PMID:24656624 PMID:25677409 PMID:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26299986 PMID:26409462 PMID:26633545 PMID:26977311 PMID:26986117 PMID:27142780 PMID:27213830 PMID:27612399 PMID:28359055 PMID:28492532 PMID:28638818 PMID:29047407 PMID:29290516 PMID:30597534 PMID:31474985 PMID:32060250 PMID:32199921 PMID:32822427 PMID:33917151 PMID:34145613 PMID:34525209 PMID:34809655 PMID:35387795 More...
NCBI chr 5:114,582,324...114,598,652
Ensembl chr 5:114,582,330...114,598,652
G
Nlrc4
NLR family, CARD domain containing 4
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr17:74,733,254...74,766,140
Ensembl chr17:74,732,433...74,766,137
G
Nlrp12
NLR family, pyrin domain containing 12
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 PMID:21538323 PMID:24033266 PMID:24064030 PMID:25741868 PMID:25741909 PMID:27314497 PMID:27633793 PMID:28492532 PMID:29500522 PMID:30783801 PMID:30788684 PMID:30858956 PMID:31820221 PMID:34975878 More...
NCBI chr 7:3,267,317...3,298,400
Ensembl chr 7:3,267,458...3,298,370
G
Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:49161 PMID:447320 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 PMID:12355493 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15593220 PMID:15801036 PMID:16100350 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:17576681 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20131270 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:22128899 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22843550 PMID:22935299 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24431285 PMID:24649046 PMID:24759409 PMID:25038238 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29922587 PMID:29977033 PMID:30214525 PMID:30311386 PMID:30407166 PMID:30772614 PMID:30808881 PMID:32082075 PMID:32199921 More...
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 PMID:11910337 PMID:12019468 PMID:12115249 PMID:12202985 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12626759 PMID:12650796 PMID:12673278 PMID:12704363 PMID:14508222 PMID:14765395 PMID:15002819 PMID:15024686 PMID:15044951 PMID:15190267 PMID:15198989 PMID:15320482 PMID:15571588 PMID:15712650 PMID:15770725 PMID:15967635 PMID:16010583 PMID:16199547 PMID:16278823 PMID:16416181 PMID:16485124 PMID:16669960 PMID:17301648 PMID:17489054 PMID:17576681 PMID:18240302 PMID:18419343 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18942754 PMID:19103559 PMID:19184348 PMID:19184350 PMID:19185283 PMID:19349988 PMID:19397946 PMID:19467619 PMID:19641059 PMID:19713276 PMID:19748964 PMID:20032092 PMID:20047977 PMID:20230816 PMID:20332463 PMID:20713205 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21460759 PMID:21548950 PMID:21565239 PMID:21745302 PMID:21830272 PMID:21914217 PMID:21951874 PMID:21983784 PMID:21994160 PMID:22275320 PMID:22319155 PMID:22344438 PMID:22440928 PMID:22543157 PMID:22684479 PMID:22859352 PMID:22939045 PMID:22942351 PMID:23102769 PMID:23128233 PMID:23173613 PMID:23615072 PMID:23633568 PMID:23709157 PMID:24033266 PMID:24047397 PMID:24345423 PMID:24391456 PMID:24583628 PMID:24586700 PMID:24597572 PMID:24803813 PMID:25093298 PMID:25209167 PMID:25365249 PMID:25416713 PMID:25741868 PMID:26042516 PMID:26070941 PMID:26164256 PMID:26167078 PMID:26316104 PMID:26500656 PMID:26774591 PMID:27306066 PMID:27373512 PMID:28008999 PMID:28166811 PMID:28422189 PMID:28492532 PMID:28658209 PMID:28750667 PMID:28814775 PMID:29178652 PMID:29248579 PMID:29321258 PMID:29446656 PMID:29795570 PMID:29867916 PMID:30159790 PMID:30166421 PMID:30167848 PMID:30552907 PMID:30553995 PMID:31681265 PMID:32463623 PMID:32597225 PMID:32716958 More...
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
G
Prf1
perforin 1 (pore forming protein)
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11841437 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:14739222 PMID:14757862 PMID:15077010 PMID:15342365 PMID:15365097 PMID:15459303 PMID:15659737 PMID:15728124 PMID:15755277 PMID:15755897 PMID:16278825 PMID:16374518 PMID:16720836 PMID:16860143 PMID:17164654 PMID:17311987 PMID:17475905 PMID:17477373 PMID:17525286 PMID:17606450 PMID:17674359 PMID:17873118 PMID:18496551 PMID:18799942 PMID:18927437 PMID:19487666 PMID:20019066 PMID:20092789 PMID:20197201 PMID:21234777 PMID:21674762 PMID:21881043 PMID:22249210 PMID:22437823 PMID:22970278 PMID:23255033 PMID:23287865 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24309606 PMID:24916509 PMID:25047945 PMID:25233452 PMID:25741868 PMID:25741905 PMID:25776844 PMID:25845254 PMID:25937001 PMID:26184781 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26684649 PMID:26739415 PMID:27271812 PMID:27391055 PMID:27535533 PMID:28492532 PMID:29263817 PMID:29357941 PMID:29665027 PMID:31388699 PMID:31395954 PMID:31664448 PMID:32150605 PMID:32356861 PMID:32542393 PMID:32638196 PMID:33225392 PMID:33658321 PMID:33746956 PMID:34938098 More...
NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
G
Psmb8
proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7)
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532
NCBI chr17:34,417,169...34,420,428
Ensembl chr17:34,416,695...34,420,428
G
Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:25741868 PMID:27577878 PMID:28492532 PMID:30290665 PMID:35482138
NCBI chr 9:55,985,729...56,036,174
Ensembl chr 9:55,997,246...56,036,172
G
Rab27a
RAB27A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:10835631 PMID:15475639 PMID:16199547 PMID:16278825 PMID:18397837 PMID:19030707 PMID:19953648 PMID:23160464 PMID:24678334 PMID:25071262 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25801174 PMID:26880764 PMID:27016801 PMID:27781387 PMID:28353193 PMID:28492532 PMID:29357941 PMID:29522846 PMID:30290665 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32853466 PMID:32856792 PMID:32888943 PMID:32965739 PMID:34329649 PMID:34573280 More...
NCBI chr 9:72,952,092...73,004,905
Ensembl chr 9:72,952,136...73,004,911
G
Scnn1a
sodium channel, nonvoltage-gated 1 alpha
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:25741868
NCBI chr 6:125,286,657...125,321,906
Ensembl chr 6:125,297,622...125,321,906
G
Sgsh
N-sulfoglucosamine sulfohydrolase (sulfamidase)
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 PMID:28492532 PMID:30018619 PMID:30387497 PMID:31971603 PMID:36174714 PMID:36221432 More...
NCBI chr11:119,234,315...119,246,336
Ensembl chr11:119,234,251...119,246,362
G
Sh2d1a
SH2 domain containing 1A
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 PMID:28492532 PMID:31415280 More...
NCBI chr X:41,591,442...41,610,974
Ensembl chr X:41,591,330...41,618,207
G
Slc7a7
solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:10631139 PMID:15776427 PMID:17530437 PMID:17764084 PMID:20301535 PMID:25741868 PMID:26740551 PMID:28492532 PMID:28976792 PMID:29795570 PMID:34095032 More...
NCBI chr14:54,606,899...54,657,525
Ensembl chr14:54,606,899...54,655,237
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28087229 PMID:28166811 PMID:28492532 PMID:30919572 PMID:32673614 PMID:33488593 PMID:35086391 PMID:35482138 PMID:36275728 More...
NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607
G
Stx11
syntaxin 11
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:24524345 PMID:25741868 PMID:28492532
NCBI chr10:12,813,961...12,840,242
Ensembl chr10:12,813,953...12,840,042
G
Stxbp2
syntaxin binding protein 2
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 PMID:21881043 PMID:22451424 PMID:23687090 PMID:24033266 PMID:24194549 PMID:24916509 PMID:25741868 PMID:27577878 PMID:27781387 PMID:28492532 PMID:29665027 PMID:32256442 PMID:32542393 PMID:32935436 PMID:34050687 PMID:34249802 PMID:34330684 PMID:36588876 PMID:36706356 More...
NCBI chr 8:3,680,960...3,693,998
Ensembl chr 8:3,680,955...3,693,644
G
Tbce
tubulin-specific chaperone E
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr13:14,172,532...14,214,235
Ensembl chr13:14,172,534...14,214,223
G
Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:10199409 PMID:11443543 PMID:16508982 PMID:16635178 PMID:16684962 PMID:18512793 PMID:19917181 PMID:21029567 PMID:22311714 PMID:22801493 PMID:23322460 PMID:23745996 PMID:23965844 PMID:24033266 PMID:24393624 PMID:25326637 PMID:25741868 PMID:25936627 PMID:26598380 PMID:27264265 PMID:28492532 PMID:28814775 PMID:32380704 PMID:32831641 PMID:35753512 More...
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
G
Unc13d
unc-13 homolog D
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:16199547 PMID:16278825 PMID:16825436 PMID:17576681 PMID:17993578 PMID:18240215 PMID:18492689 PMID:18759271 PMID:19484379 PMID:19704116 PMID:20823128 PMID:21094958 PMID:21152410 PMID:21248318 PMID:21370424 PMID:21600143 PMID:21674762 PMID:21755595 PMID:21881043 PMID:23180437 PMID:23840885 PMID:24033266 PMID:24139496 PMID:24459464 PMID:24470399 PMID:24916509 PMID:25502423 PMID:25573973 PMID:25741868 PMID:26342526 PMID:28399723 PMID:28492532 PMID:28748566 PMID:29113160 PMID:29262924 PMID:29357941 PMID:29415165 PMID:29549174 PMID:30899265 PMID:32222431 PMID:32375849 PMID:32542393 PMID:32638196 PMID:33746956 PMID:34170459 PMID:34339548 PMID:34677667 PMID:36155879 More...
NCBI chr11:115,952,921...115,969,321
Ensembl chr11:115,952,921...115,968,787
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Xiap
X-linked inhibitor of apoptosis
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:20517649 PMID:21119115 PMID:23944711 PMID:24033266 PMID:24616127 PMID:25741868 PMID:27537055 PMID:28492532 More...
NCBI chr X:41,148,483...41,198,541
Ensembl chr X:41,148,556...41,198,533
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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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Cyp3a13
cytochrome P450, family 3, subfamily a, polypeptide 13
susceptibility
ISO
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human)
RGD
PMID:19332043
RGD:11353804
NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881
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Fcgr4
Fc receptor, IgG, low affinity IV
treatment
ISO
associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human)
RGD
PMID:27282998
RGD:11344967
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
DNA:polymorphism: : rs1695(human)
RGD
PMID:25008867
RGD:10755412
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Itpa
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
ISO
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human)
RGD
PMID:18685564
RGD:10766478
NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534
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Mbl2
mannose-binding lectin (protein C) 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 chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Mdm2
transformed mouse 3T3 cell double minute 2
susceptibility
ISO
associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human)
RGD
PMID:21706156
RGD:11073725
NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663
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Trp53
transformation related protein 53
susceptibility
ISO
associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human)
RGD
PMID:21706156
RGD:11073725
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Cyba
cytochrome b-245, alpha polypeptide
ISO
autosomal recessive cytochrome b-negative CGD, OMIM:233690;DNA:missense mutation: :p.R90Q (human) ClinVar Annotator: match by term: Chronic granulomatous disease CTD Direct Evidence: marker/mechanism DNA:nonsense,missense mutations:exons:35C>T, 98G>A,(p.Q3X,G24R)(human) DNA:mutations:multiple (human)
ClinVar CTD RGD
PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:8168815 PMID:9445163 PMID:9536098 PMID:10440830 PMID:10759707 PMID:10910929 PMID:16199547 PMID:17576681 PMID:19292887 PMID:19388116 PMID:19949658 PMID:20167518 PMID:20674832 PMID:21190454 PMID:22336310 PMID:22876374 PMID:22924696 PMID:25741868 PMID:26185101 PMID:26936803 PMID:27537055 PMID:27701760 PMID:28341171 PMID:28492532 PMID:29454792 PMID:30709874 PMID:31456102 PMID:31813112 PMID:32040803 PMID:32081864 PMID:33717137 PMID:34547651 PMID:35960392 PMID:36606663 PMID:1415254 PMID:10759707 PMID:2243141 More...
RGD:1600791 , RGD:11040541 , RGD:734861
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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Cybb
cytochrome b-245, beta polypeptide
ISO IAGP
DNA:point mutations:promoter ClinVar Annotator: match by term: Chronic granulomatous disease CTD Direct Evidence: marker/mechanism|therapeutic OMIM:138990 | OMIM:233690 | OMIM:233700 | OMIM:233710 | OMIM:306400 | OMIM:613960 DNA:mutations:promoter:
ClinVar CTD MouseDO RGD
PMID:1347621 PMID:8634410 PMID:9585602 PMID:11045425 PMID:11122248 PMID:11498749 PMID:17293536 PMID:18546332 PMID:20729109 PMID:21190454 PMID:21278736 PMID:22924737 PMID:23859418 PMID:24276928 PMID:25741868 PMID:28492532 PMID:29560547 PMID:8083361 PMID:11122248 More...
RGD:1599664 , RGD:11040566
NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010
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G6pdx
glucose-6-phosphate dehydrogenase X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4125296
NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800
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Ifng
interferon gamma
ISO
RGD
PMID:22883043
RGD:6893353
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Ncf1
neutrophil cytosolic factor 1
ISO IAGP
autosomal recessive cytochrome b-positive CGC type I, OMIM:233700, DNA:splice-site mutation:75delGT ClinVar Annotator: match by term: Chronic granulomatous disease OMIM:138990 | OMIM:233690 | OMIM:233700 | OMIM:233710 | OMIM:306400 | OMIM:613960
ClinVar MouseDO RGD
PMID:11920901 PMID:24446915 PMID:25741868 PMID:33746979 PMID:7678602 PMID:2393022 More...
RGD:1600562 , RGD:1624401
NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479
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Ncf2
neutrophil cytosolic factor 2
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease
ClinVar RGD
PMID:9536098 PMID:10498624 PMID:17576681 PMID:19624736 PMID:20167518 PMID:21190454 PMID:28035544 PMID:28492532 PMID:34547651 PMID:2393022 More...
RGD:1624401
NCBI chr 1:152,675,904...152,712,743
Ensembl chr 1:152,675,945...152,712,742
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Ncf4
neutrophil cytosolic factor 4
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease
ClinVar
PMID:16880254 PMID:19692703 PMID:20167518 PMID:28492532 PMID:29969437 PMID:34034819 More...
NCBI chr15:78,128,324...78,146,782
Ensembl chr15:78,129,001...78,146,780
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Tlr5
toll-like receptor 5
ISO
protein:decreased expression:blood, neutrophil (human)
RGD
PMID:18155283
RGD:5130865
NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010
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Tlr9
toll-like receptor 9
ISO
protein:decreased expression:blood, neutrophil (human)
RGD
PMID:18155283
RGD:5130865
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Iftap
intraflagellar transport associated protein
ISO
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
ClinVar
PMID:8810255 PMID:11133745 PMID:24290284 PMID:25739914 PMID:28492532
NCBI chr 2:101,391,124...101,459,376
Ensembl chr 2:101,391,126...101,479,877
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:290284 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:15696198 PMID:15908971 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17176792 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18223550 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19011808 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21625022 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24331380 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24817258 PMID:24985406 PMID:25104208 PMID:25516070 PMID:25707801 PMID:25739914 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26689875 PMID:26829731 PMID:27095930 PMID:27301863 PMID:27484032 PMID:27609655 PMID:27713031 PMID:28083621 PMID:28109013 PMID:28216420 PMID:28492532 PMID:28623282 PMID:28747913 PMID:28769923 PMID:28783691 PMID:28864286 PMID:29104089 PMID:29107076 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31031743 PMID:31130284 PMID:31313695 PMID:31503426 PMID:31632441 PMID:31980526 PMID:32000930 PMID:32373116 PMID:32445296 PMID:32447396 PMID:32633164 PMID:32655540 PMID:32670274 PMID:32888943 PMID:33117328 PMID:33193364 PMID:33365035 PMID:33628209 PMID:33954879 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 PMID:35729272 PMID:35902638 More...
NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846
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Rag2
recombination activating gene 2
ISO
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2618670 PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:12200379 PMID:15025726 PMID:16111638 PMID:16960852 PMID:17476358 PMID:17572155 PMID:18025461 PMID:18033247 PMID:18463379 PMID:18682256 PMID:19178939 PMID:19333736 PMID:19414857 PMID:19763152 PMID:20234091 PMID:20307669 PMID:20603253 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21625022 PMID:21664875 PMID:22295088 PMID:22406018 PMID:22841008 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24174341 PMID:24290284 PMID:24331380 PMID:24481607 PMID:24996264 PMID:25109802 PMID:25333069 PMID:25707801 PMID:25739914 PMID:25741868 PMID:25842288 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:26996199 PMID:27730413 PMID:28492532 PMID:28600779 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29095814 PMID:29658452 PMID:29772310 PMID:30305145 PMID:30307608 PMID:30778343 PMID:31031743 PMID:31058115 PMID:31334206 PMID:31388879 PMID:31838659 PMID:32445296 PMID:32531373 PMID:32581362 PMID:32655540 PMID:32888943 PMID:33505738 PMID:33628209 PMID:33954879 More...
NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Cutaneous mastocytosis
ClinVar
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9827716 PMID:9990072 PMID:11276010 PMID:11380399 PMID:11493470 PMID:11505412 PMID:12960119 PMID:15173254 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16908931 PMID:16912224 PMID:17259998 PMID:17372901 PMID:18024392 PMID:18980976 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19812602 PMID:19865100 PMID:20736294 PMID:21159146 PMID:21689725 PMID:22357254 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:24755198 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Kitl
kit ligand
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20559008
NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278
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2310011J03Rik
RIKEN cDNA 2310011J03 gene
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,154,089...80,156,382
Ensembl chr10:80,154,088...80,156,371
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Abca7
ATP-binding cassette, sub-family A member 7
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,832,328...79,851,406
Ensembl chr10:79,832,328...79,851,406
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Abhd17a
abhydrolase domain containing 17A
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,419,483...80,426,199
Ensembl chr10:80,419,488...80,426,175
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Adamtsl5
ADAMTS-like 5
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,175,655...80,184,246
Ensembl chr10:80,174,944...80,184,246
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Adat3
adenosine deaminase, tRNA-specific 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,438,714...80,443,488
Ensembl chr10:80,441,855...80,451,618 Ensembl chr10:80,441,855...80,451,618
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Ap3b1
adaptor-related protein complex 3, beta 1 subunit
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 PMID:37673175 More...
NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825
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Ap3d1
adaptor-related protein complex 3, delta 1 subunit
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098
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Apc2
APC regulator of WNT signaling pathway 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,131,790...80,154,091
Ensembl chr10:80,131,811...80,154,097
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Arhgap45
Rho GTPase activating protein 45
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,852,505...79,867,305
Ensembl chr10:79,852,487...79,867,306
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Arid3a
AT-rich interaction domain 3A
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,762,877...79,790,852
Ensembl chr10:79,762,877...79,790,852
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Atp5f1d
ATP synthase F1 subunit delta
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,974,451...79,981,662
Ensembl chr10:79,974,466...79,981,652
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Atp8b3
ATPase, class I, type 8B, member 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,355,418...80,374,987
Ensembl chr10:80,355,418...80,374,958
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Btbd2
BTB domain containing 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,478,457...80,492,328
Ensembl chr10:80,478,451...80,492,328
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Cbarp
calcium channel, voltage-dependent, beta subunit associated regulatory protein
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,966,268...79,976,189
Ensembl chr10:79,966,285...79,976,669
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Cfd
complement factor D
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,726,687...79,728,489
Ensembl chr10:79,726,687...79,728,489
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Cirbp
cold inducible RNA binding protein
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,001,824...80,008,620
Ensembl chr10:80,001,819...80,008,620
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Cnn2
calponin 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,824,434...79,831,234
Ensembl chr10:79,824,418...79,831,896
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Csnk1g2
casein kinase 1, gamma 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,458,465...80,476,605
Ensembl chr10:80,458,672...80,476,583
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Dazap1
DAZ associated protein 1
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,097,168...80,124,242
Ensembl chr10:80,097,320...80,124,242
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Efna2
ephrin A2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,015,316...80,025,844
Ensembl chr10:80,015,316...80,025,844
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Elane
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: Cyclical neutropenia CTD Direct Evidence: marker/mechanism DNA:mutations: :
OMIM ClinVar CTD RGD
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 PMID:11675333 PMID:14962902 PMID:15657182 PMID:16079102 PMID:16199547 PMID:16551967 PMID:16737875 PMID:16986121 PMID:17053055 PMID:17391497 PMID:17436313 PMID:17576681 PMID:18028488 PMID:18611981 PMID:18703682 PMID:19036076 PMID:19415009 PMID:19775295 PMID:20049848 PMID:20582973 PMID:20803142 PMID:21425445 PMID:21618407 PMID:22148006 PMID:22510773 PMID:22624626 PMID:22758217 PMID:23382209 PMID:23463630 PMID:24184683 PMID:24523240 PMID:24616599 PMID:25162927 PMID:25427142 PMID:25703294 PMID:25705433 PMID:25741868 PMID:25912133 PMID:26567890 PMID:28073911 PMID:28492532 PMID:28881492 PMID:29076228 PMID:29517659 PMID:30040071 PMID:30171085 PMID:30273710 PMID:30386760 PMID:30635825 PMID:31009763 PMID:31176364 PMID:31248972 PMID:31321910 PMID:31574885 PMID:31965297 PMID:32581362 PMID:32888943 PMID:33179225 PMID:33225392 PMID:33513358 PMID:33942430 PMID:34093558 PMID:34340247 PMID:34573280 PMID:35047849 PMID:36734404 PMID:21425445 More...
RGD:10450519
NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Fam174c
family with sequence similarity 174, member C
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,008,778...80,010,953
Ensembl chr10:80,008,778...80,010,980
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Fgf22
fibroblast growth factor 22
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,590,887...79,593,629
Ensembl chr10:79,590,910...79,594,430
G
Fstl3
follistatin-like 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,613,108...79,618,464
Ensembl chr10:79,613,106...79,618,464
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Gamt
guanidinoacetate methyltransferase
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,093,985...80,096,846
Ensembl chr10:80,093,985...80,096,846
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Gpx4
glutathione peroxidase 4
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,883,000...79,892,273
Ensembl chr10:79,883,000...79,892,273
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Grin3b
glutamate receptor, ionotropic, NMDA3B
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,806,227...79,813,024
Ensembl chr10:79,806,549...79,813,024
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Hcn2
hyperpolarization-activated, cyclic nucleotide-gated K+ 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,552,468...79,571,942
Ensembl chr10:79,552,468...79,571,942
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Izumo4
IZUMO family member 4
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,537,858...80,541,216
Ensembl chr10:80,538,018...80,541,207
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Kiss1r
KISS1 receptor
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,752,786...79,759,922
Ensembl chr10:79,752,805...79,758,107
G
Klf16
Kruppel-like transcription factor 16
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,402,955...80,413,130
Ensembl chr10:80,402,958...80,413,155
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Mbd3
methyl-CpG binding domain protein 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,228,373...80,235,365
Ensembl chr10:80,228,373...80,235,384
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Med16
mediator complex subunit 16
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,730,543...79,744,757
Ensembl chr10:79,730,542...79,744,757
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Mex3d
mex3 RNA binding family member D
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,216,189...80,223,485
Ensembl chr10:80,216,189...80,223,493
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Midn
midnolin
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,984,106...79,994,202
Ensembl chr10:79,984,106...79,994,202
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Misp
mitotic spindle positioning
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,656,853...79,666,286
Ensembl chr10:79,656,823...79,666,324
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Mknk2
MAP kinase-interacting serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,501,152...80,512,264
Ensembl chr10:80,501,161...80,513,946
G
Mob3a
MOB kinase activator 3A
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,521,087...80,537,845
Ensembl chr10:80,521,087...80,537,811
G
Ndufs7
NADH:ubiquinone oxidoreductase core subunit S7
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,084,939...80,092,628
Ensembl chr10:80,084,955...80,092,628
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Onecut3
one cut domain, family member 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,330,740...80,353,100
Ensembl chr10:80,330,669...80,353,110
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Palm
paralemmin
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,629,406...79,656,749
Ensembl chr10:79,629,406...79,656,730
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Pcsk4
proprotein convertase subtilisin/kexin type 4
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,157,117...80,165,583
Ensembl chr10:80,157,117...80,165,332
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Plk5
polo like kinase 5
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,192,293...80,201,323
Ensembl chr10:80,192,293...80,201,323
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Plppr3
phospholipid phosphatase related 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,696,309...79,710,948
Ensembl chr10:79,696,309...79,710,468
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Polr2e
polymerase (RNA) II (DNA directed) polypeptide E
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,871,787...79,875,493
Ensembl chr10:79,871,783...79,875,629
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Polrmt
polymerase (RNA) mitochondrial (DNA directed)
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,571,951...79,582,436
Ensembl chr10:79,571,957...79,582,415
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Prss57
serine protease 57
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,617,308...79,630,523
Ensembl chr10:79,617,308...79,626,795
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Prtn3
proteinase 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,715,499...79,719,008
Ensembl chr10:79,710,310...79,719,008
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Ptbp1
polypyrimidine tract binding protein 1
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,690,502...79,700,269
Ensembl chr10:79,690,261...79,700,605
G
Pwwp3a
PWWP domain containing 3A, DNA repair factor
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,062,265...80,082,415
Ensembl chr10:80,062,268...80,079,737
G
R3hdm4
R3H domain containing 4
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,745,886...79,752,764
Ensembl chr10:79,745,886...79,757,042
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Reep6
receptor accessory protein 6
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,165,831...80,172,275
Ensembl chr10:80,165,787...80,172,275
G
Rexo1
REX1, RNA exonuclease 1
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,376,759...80,400,624
Ensembl chr10:80,376,756...80,397,394
G
Rnf126
ring finger protein 126
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,594,349...79,607,282
Ensembl chr10:79,594,349...79,602,786
G
Rps15
ribosomal protein S15
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,128,265...80,129,948
Ensembl chr10:80,128,287...80,129,948
G
Sbno2
strawberry notch 2
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,892,826...79,941,942
Ensembl chr10:79,892,826...79,941,405
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Scamp4
secretory carrier membrane protein 4
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,438,716...80,451,617
Ensembl chr10:80,438,706...80,451,617
G
Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481
G
Tmem259
transmembrane protein 259
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,812,954...79,820,159
Ensembl chr10:79,810,782...79,820,164
G
Uqcr11
ubiquinol-cytochrome c reductase, complex III subunit XI
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:80,238,831...80,242,655
Ensembl chr10:80,238,831...80,242,664
G
Wdr18
WD repeat domain 18
ISO
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr10:79,795,989...79,805,081
Ensembl chr10:79,795,986...79,806,037
G
Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: MASTOCYTOSIS, DIFFUSE CUTANEOUS
ClinVar
PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 PMID:11380399 PMID:11493470 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:21689725 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Abcb1a
ATP-binding cassette, sub-family B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21325069
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
G
Abcg2
ATP binding cassette subfamily G member 2 (Junior blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625222
NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661
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Alk
anaplastic lymphoma kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622
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B2m
beta-2 microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7688627
NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
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Bcas2
BCAS2 pre-mRNA processing factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chr 3:103,078,971...103,086,479
Ensembl chr 3:103,078,971...103,086,482
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Bcl2
B cell leukemia/lymphoma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Bcl2l2
BCL2-like 2
disease_progression
ISO
RGD
PMID:28094768
RGD:14394511
NCBI chr14:55,120,900...55,125,691
Ensembl chr14:55,120,834...55,125,691
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Bcl6
B cell leukemia/lymphoma 6
disease_progression
ISO
diffuse large B-cell lymphoma
RGD
PMID:11821949 PMID:15701085
RGD:1600111 , RGD:11530023
NCBI chr16:23,780,058...23,807,602
Ensembl chr16:23,783,802...23,807,602
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Braf
Braf transforming gene
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
G
Brca2
breast cancer 2, early onset
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9150172 PMID:18489799 PMID:20104584 PMID:21138478 PMID:22798144 PMID:22970155 PMID:24010542 PMID:24033266 PMID:24916970 PMID:25682074 PMID:25741868 PMID:25940717 PMID:26295337 PMID:26467025 PMID:26845104 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28692638 PMID:28724667 PMID:28993434 PMID:29310832 PMID:29335925 PMID:29360550 PMID:29752822 PMID:29907814 PMID:30093976 PMID:30287823 PMID:30613976 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30736435 PMID:30875412 PMID:31159747 PMID:31214711 PMID:31360904 PMID:31396961 PMID:31589614 PMID:31742824 PMID:31825140 PMID:31957001 PMID:32072338 PMID:32295079 PMID:32338768 PMID:32846166 PMID:32959997 PMID:33471991 PMID:33558524 PMID:36988593 More...
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
G
Btk
Bruton agammaglobulinemia tyrosine kinase
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:24869598 PMID:25082755 PMID:25189416 PMID:25741868 PMID:27199251 PMID:28049639 PMID:28212557 PMID:28418267 PMID:28492532 PMID:29496671 PMID:29875397 PMID:30018078 PMID:32455989 PMID:33154951 PMID:36029036 More...
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
G
Card11
caspase recruitment domain family, member 11
ISO
DNA:missense mutations:exons:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25049379 PMID:26192916 PMID:18323416
RGD:11100036
NCBI chr 5:140,858,109...140,986,398
Ensembl chr 5:140,858,745...140,986,337
G
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Ccdc86
coiled-coil domain containing 86
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23828858
NCBI chr19:10,918,845...10,926,630
Ensembl chr19:10,918,845...10,926,630
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Cd22
CD22 antigen
treatment
ISO
RGD
PMID:25708834
RGD:151665133
NCBI chr 7:30,564,829...30,579,767
Ensembl chr 7:30,564,827...30,579,767
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Cd40
CD40 antigen
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
RGD
PMID:20473910
RGD:5490541
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
G
Cd79a
CD79A antigen (immunoglobulin-associated alpha)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25049379
NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622
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Cd79b
CD79B antigen
severity treatment
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diffuse large B cell lymphoma DNA:missense mutation:multiple, exon 5 (human) DNA:missense mutation:multiple, exon 5-6 (human) DNA:mutation:multiple (human)
CTD ClinVar RGD
PMID:11160144 PMID:21173233 PMID:31402495 PMID:31609782 PMID:25347427 PMID:25708834 PMID:28803429 More...
RGD:151665203 , RGD:11075852 , RGD:151665133 , RGD:151665120
NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588
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Cdk1
cyclin dependent kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223503
NCBI chr10:69,170,976...69,188,742
Ensembl chr10:69,170,976...69,188,768
G
Cdkn2a
cyclin dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21325069
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
G
Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:16199547 PMID:21876083 PMID:24713400 PMID:28492532
NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
G
Cltc
clathrin heavy chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chr11:86,585,178...86,648,637
Ensembl chr11:86,585,177...86,648,391
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:24755471 PMID:28481359 PMID:30239046 PMID:33323405
NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
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Dicer1
dicer 1, ribonuclease type III
disease_progression
ISO
RGD
PMID:25195038
RGD:149735347
NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211
G
Dnmt3a
DNA methyltransferase 3A
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 PMID:33238114 PMID:34315901 More...
NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443
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Etv6
ets variant 6
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:35053500
NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20081860 PMID:28438623
RGD:126779596
NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fcgr3
Fc receptor, IgG, low affinity III
disease_progression
ISO
DNA:SNP: :rs1801274 (human)
RGD
PMID:27282998
RGD:11344967
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
G
Foxo1
forkhead box O1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:26314988 PMID:29721381 PMID:35079069
NCBI chr 3:52,175,758...52,257,530
Ensembl chr 3:52,175,757...52,260,642
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Gli1
GLI-Kruppel family member GLI1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625222
NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843
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Gstm1
glutathione S-transferase, mu 1
treatment
ISO
RGD
PMID:20303013
RGD:10450835
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
G
Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
DNA:SNP: :(rs1695)(human)
RGD
PMID:19338043
RGD:8547939
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
G
Gstt1
glutathione S-transferase, theta 1
severity
ISO
DNA:deletion:cds:
RGD
PMID:20303013
RGD:10450835
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
G
Icam1
intercellular adhesion molecule 1
disease_progression
ISO
proteion:increased expression:serum:
RGD
PMID:12598355
RGD:11354982
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
G
Il21r
interleukin 21 receptor
ISO
diffuse large B-cell lymphoma
RGD
PMID:11821949
RGD:1600111
NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
G
Immp2l
IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chr12:41,074,060...42,002,371
Ensembl chr12:41,074,089...42,002,371
G
Irf4
interferon regulatory factor 4
disease_progression
ISO
RGD
PMID:15701085
RGD:11530023
NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959
G
Kmt2d
lysine (K)-specific methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804550
NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
G
Malt1
MALT1 paracaspase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr18:65,564,010...65,612,138
Ensembl chr18:65,564,009...65,612,138
G
Mki67
antigen identified by monoclonal antibody Ki 67
disease_progression
ISO
RGD
PMID:20919850
RGD:6483541
NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:17712558
RGD:6893517
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Myc
myelocytomatosis oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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Myd88
myeloid differentiation primary response gene 88
severity
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diffuse large B cell lymphoma DNA:missense mutation:L265P (human) DNA:mutation:L265P, L265S (human)
CTD ClinVar RGD
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:25049379 PMID:26619011 PMID:28492532 PMID:31609782 PMID:25347427 PMID:28803429 More...
RGD:151665203 , RGD:11075852 , RGD:151665120
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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Nbn
nibrin
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9590180 PMID:16415040 PMID:28492532
NCBI chr 4:15,955,388...15,992,589
Ensembl chr 4:15,957,925...15,992,589
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chr 7:19,450,569...19,483,498
Ensembl chr 7:19,450,569...19,484,408
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:21390130 PMID:22158541 PMID:23292937
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
no_association
ISO
RGD
PMID:15198731
RGD:2298905
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
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Nom1
nucleolar protein with MIF4G domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chr 5:29,637,338...29,658,504
Ensembl chr 5:29,639,662...29,662,841
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Pdpk1
3-phosphoinositide dependent protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr17:24,292,654...24,370,957
Ensembl chr17:24,292,654...24,369,898
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr 9:98,920,455...99,022,264
Ensembl chr 9:98,918,707...99,022,674
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
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Pms2
PMS1 homolog2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786 Ensembl chr 5:143,846,782...143,870,786
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Prdm1
PR domain containing 1, with ZNF domain
disease_progression
ISO
RGD
PMID:22321048
RGD:150530470
NCBI chr10:44,313,170...44,404,579
Ensembl chr10:44,313,173...44,404,497
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Prdx3
peroxiredoxin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr19:60,852,504...60,862,976
Ensembl chr19:60,852,489...60,862,994
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Prdx4
peroxiredoxin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr X:154,106,914...154,125,268
Ensembl chr X:154,106,914...154,123,750
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Prmt5
protein arginine N-methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31123343
NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:10468583 PMID:10555148 PMID:10698513 PMID:10866302 PMID:10866658 PMID:11035045 PMID:11504908 PMID:12297295 PMID:15016963 PMID:15254419 PMID:15647370 PMID:17526800 PMID:17526801 PMID:18725974 PMID:19366826 PMID:19903786 PMID:20085938 PMID:20453058 PMID:20619739 PMID:21194675 PMID:22162582 PMID:22162589 PMID:22628360 PMID:24778394 PMID:24905788 PMID:25157968 PMID:25336918 PMID:25448482 PMID:25669429 PMID:25741868 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29874181 More...
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Rangap1
RAN GTPase activating protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27150054
NCBI chr15:81,588,449...81,614,120
Ensembl chr15:81,588,449...81,629,731
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Rps6kb1
ribosomal protein S6 kinase, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223503
NCBI chr11:86,389,695...86,435,711
Ensembl chr11:86,389,697...86,435,631
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Sec31a
SEC31 homolog A, COPII coat complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chr 5:100,509,508...100,564,132
Ensembl chr 5:100,509,508...100,564,093
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Sf3a1
splicing factor 3a, subunit 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:22037554 PMID:26498691 PMID:33563892
NCBI chr11:4,110,354...4,132,541
Ensembl chr11:4,110,350...4,132,541
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Skp2
S-phase kinase-associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18850583
NCBI chr15:9,112,070...9,155,512
Ensembl chr15:9,112,073...9,155,512
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Smurf2
SMAD specific E3 ubiquitin protein ligase 2
IAGP
MouseDO
NCBI chr11:106,710,887...106,811,544
Ensembl chr11:106,710,892...106,811,541
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Socs1
suppressor of cytokine signaling 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:19734449 PMID:23296022 PMID:26336985 PMID:28302137 PMID:29625055
NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
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Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Sod3
superoxide dismutase 3, extracellular
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr 5:52,521,146...52,527,080
Ensembl chr 5:52,521,133...52,528,760
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:21690253 PMID:22591296 PMID:22859607 PMID:23926297 PMID:25873174 PMID:26702067 PMID:28492532 PMID:29162862 PMID:29180260 PMID:30940614 PMID:31737384 PMID:31770611 PMID:31771617 PMID:32231398 PMID:36240433 More...
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Syk
spleen tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33782605
NCBI chr13:52,736,670...52,802,828
Ensembl chr13:52,737,209...52,802,828
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Tbl1xr1
transducin (beta)-like 1X-linked receptor 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9450851 PMID:16492805 PMID:21156281 PMID:21156282 PMID:25741868 PMID:26769062 PMID:28492532 PMID:28562391 PMID:32619424 PMID:32932517 PMID:35165208 More...
NCBI chr 3:22,130,756...22,270,758
Ensembl chr 3:22,130,816...22,270,758
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Trp53
transformation related protein 53
IAGP ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
MouseDO ClinVar
PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:10414702 PMID:11051239 PMID:11782540 PMID:12826609 PMID:14743206 PMID:16489069 PMID:16818505 PMID:17417627 PMID:17427234 PMID:17606709 PMID:17881637 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21343334 PMID:21519010 PMID:21601526 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28985567 PMID:29025599 PMID:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:36988593 More...
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Txnip
thioredoxin interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr 3:96,465,273...96,469,173
Ensembl chr 3:96,465,273...96,469,199
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Csf3
colony stimulating factor 3 (granulocyte)
treatment
ISO
associated with Graves Disease; associated with Multiple Myeloma;
RGD
PMID:15785251 PMID:8935143
RGD:11039034 , RGD:11039041
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Il1b
interleukin 1 beta
treatment
ISO
associated with Glioblastoma;
RGD
PMID:1331350
RGD:10450883
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
ISO
associated with Leukemia;protein:decreased expression:serum:
RGD
PMID:8698137
RGD:11528539
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Nat2
N-acetyltransferase 2 (arylamine N-acetyltransferase)
ISO
associated with Inflammation;
RGD
PMID:10739170
RGD:11532771
NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
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Cyp2c29
cytochrome P450, family 2, subfamily c, polypeptide 29
susceptibility
ISO
associated with Ovarian Neoplasms: DNA:polymorphism: :
RGD
PMID:21702053
RGD:11353800
NCBI chr19:39,275,541...39,319,157
Ensembl chr19:39,257,849...39,319,157
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Cyp3a13
cytochrome P450, family 3, subfamily a, polypeptide 13
susceptibility
ISO
associated with Ovarian Neoplasms: DNA:polymorphism: :
RGD
PMID:21702053
RGD:11353800
NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881
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Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
associated with Urologic Neoplasms;DNA:polymorphism:cds:p.I105V(human)
RGD
PMID:17593093
RGD:10755415
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Gstt1
glutathione S-transferase, theta 1
severity
ISO
associated with diffuse large B-cell lymphoma; DNA:deletion:cds:
RGD
PMID:20303013
RGD:10450835
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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Abcb1a
ATP-binding cassette, sub-family 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 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Abcc2
ATP-binding cassette, sub-family member 2
susceptibility no_association
ISO
associated with neoplasm;DNA:SNP:rs12762549(human)
RGD
PMID:18294295 PMID:23188068
RGD:11080980 , RGD:11080999
NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179
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Csf3
colony stimulating factor 3 (granulocyte)
treatment
ISO
associated with Leukemia, Hairy Cell; associated with Hepatitis C, Chronic;
RGD
PMID:2461131 PMID:17660602
RGD:11039035 , RGD:11039036
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Cyp2c29
cytochrome P450, family 2, subfamily c, polypeptide 29
susceptibility
ISO
associated with Ovarian Neoplasms: DNA:polymorphism: :
RGD
PMID:21702053
RGD:11353800
NCBI chr19:39,275,541...39,319,157
Ensembl chr19:39,257,849...39,319,157
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Cyp3a13
cytochrome P450, family 3, subfamily a, polypeptide 13
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 chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881
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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 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573
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Ercc1
excision repair cross-complementing rodent repair deficiency, complementation group 1
treatment
ISO
associated with Colorectal Neoplasms;DNA:SNP
RGD
PMID:23543295
RGD:11340199
NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449
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Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
treatment
ISO
associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:21047201
RGD:11098572
NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
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Ercc6
excision repair cross-complementing rodent repair deficiency, complementation group 6
treatment
ISO
associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human)
RGD
PMID:28924235
RGD:153323316
NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947
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Fcgr4
Fc receptor, IgG, low affinity IV
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 chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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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 chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Gstt1
glutathione S-transferase, theta 1
susceptibility
ISO
associated with breast cancer
RGD
PMID:23812950
RGD:10755330
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
RGD
PMID:27400856
RGD:14928329
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Il1a
interleukin 1 alpha
treatment
ISO
associated with Carcinoma, Non-Small-Cell Lung
RGD
PMID:7666093
RGD:11051963
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Mdm2
transformed mouse 3T3 cell double minute 2
susceptibility
ISO
associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human)
RGD
PMID:24732641
RGD:11073715
NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663
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Pold1
polymerase (DNA directed), 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 7:44,182,168...44,198,239
Ensembl chr 7:44,182,170...44,198,273
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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 6:141,575,178...141,632,372
Ensembl chr 6:141,575,244...141,632,372
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Sod2
superoxide dismutase 2, mitochondrial
susceptibility
ISO
associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human)
RGD
PMID:20309628
RGD:11035278
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Trp53
transformation related protein 53
susceptibility
ISO
associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human)
RGD
PMID:24732641
RGD:11073715
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Ugt1a1
UDP glucuronosyltransferase 1 family, polypeptide 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 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719
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Abcb1a
ATP-binding cassette, sub-family B member 1A
ISO
associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus (human)
RGD
PMID:24717943
RGD:8657092
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Bdkrb2
bradykinin receptor, beta 2
IDA
RGD
PMID:10385260
RGD:4891039
NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496
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Ccl11
C-C motif chemokine ligand 11
ISO
associated with Sinusitis
RGD
PMID:19296494
RGD:4891487
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl17
C-C motif chemokine ligand 17
severity
ISO
associated with Lymphoma, T-Cell
RGD
PMID:18395252
RGD:11354898
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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Ccl24
C-C motif chemokine ligand 24
ISO
associated with Sinusitis
RGD
PMID:19296494
RGD:4891487
NCBI chr 5:135,598,789...135,601,977
Ensembl chr 5:135,598,791...135,601,903
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Ccl26
C-C motif chemokine ligand 26
ISO
associated with Sinusitis associated with Pleural Effusion
RGD
PMID:19296494 PMID:15947325
RGD:4891487 , RGD:5130928
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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Ccr3
C-C motif chemokine receptor 3
ISO
associated with Asthma
RGD
PMID:17983872
RGD:4145642
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Cebpb
CCAAT/enhancer binding protein beta
IMP
RGD
PMID:24078688
RGD:40903041
NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338
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Cyba
cytochrome b-245, alpha polypeptide
ISO
DNA:deletion:splice junction:
RGD
PMID:19406829 PMID:21512270 PMID:20660993
RGD:11040542 , RGD:5134988 , RGD:5134976
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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Fip1l1
factor interacting with PAPOLA and CPSF1
ISO
DNA:gene fusion
RGD
PMID:23114151
RGD:11075088
NCBI chr 5:74,695,774...74,759,451
Ensembl chr 5:74,696,110...74,759,461
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27315767
NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
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Il5
interleukin 5
severity treatment
ISO IMP
associated with Lymphoma, T-Cell CTD Direct Evidence: marker/mechanism associated with Toxocariasis associated with Dermatitis, Atopic;DNA:polymorphism:promoter:-703C>T (human)
CTD RGD
PMID:1988543 PMID:11006010 PMID:18395252 PMID:1699772 PMID:1988543 PMID:14581138 More...
RGD:11354898 , RGD:11354933 , RGD:11354921 , RGD:11354913
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Il5ra
interleukin 5 receptor, alpha
ISO
RGD
PMID:21762978
RGD:11354970
NCBI chr 6:106,687,336...106,725,998
Ensembl chr 6:106,687,318...106,725,998
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Kng2
kininogen 2
ISO
RGD
PMID:1937926
RGD:11059896
NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232
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Myd88
myeloid differentiation primary response gene 88
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26882889
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
ISO
DNA:translocation: (human) DNA:gene fusion
RGD
PMID:15284118 PMID:23114151
RGD:1580848 , RGD:11075088
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Rag2
recombination activating gene 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27315767
NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874
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Sharpin
SHANK-associated RH domain interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19650867
NCBI chr15:76,231,240...76,235,310
Ensembl chr15:76,231,240...76,235,311
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Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26882889
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26882889
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19790128
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19790128
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Ang
angiogenin, ribonuclease, RNase A family, 5
ISO
RGD
PMID:22331014
RGD:6771318
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
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Ankrd27
ankyrin repeat domain 27
ISO
DNA:SNPs:intron: (rs3815700, rs10410895) (human)
RGD
PMID:25407941
RGD:11100048
NCBI chr 7:35,285,652...35,338,662
Ensembl chr 7:35,285,669...35,338,651
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Ccl26
C-C motif chemokine ligand 26
treatment
ISO
protein:increased expression:esophagus (human)
RGD
PMID:18844613 PMID:24704289
RGD:11081156 , RGD:11081157
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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Ccr3
C-C motif chemokine receptor 3
IMP
RGD
PMID:1316818
RGD:6893390
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Cd40lg
CD40 ligand
ISO
protein:decreased expression:plasma
RGD
PMID:21211656
RGD:5490306
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
treatment
ISO
DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Cyp2c66
cytochrome P450, family 2, subfamily c, polypeptide 66
treatment
ISO
DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516
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Il5
interleukin 5
IMP
RGD
PMID:23161496
RGD:11354947
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Pecam1
platelet/endothelial cell adhesion molecule 1
ISO
protein:increased expression:esophagus (human)
RGD
PMID:22331014
RGD:6771318
NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
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Tgfb1
transforming growth factor, beta 1
ISO
RGD
PMID:24486052
RGD:11073602
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20208534
NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
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Ccl26
C-C motif chemokine ligand 26
ISO
mRNA:increased expression:gastric antrum (human)
RGD
PMID:25234644
RGD:11081160
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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Il5
interleukin 5
ISO
protein:increased expression:intestine, eosinophil
RGD
PMID:8608886
RGD:11354940
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:skin, sebocyte (human)
RGD
PMID:22206772
RGD:11081159
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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Bcl10
B cell leukemia/lymphoma 10
ISO
ClinVar Annotator: match by term: MALT lymphoma
ClinVar OMIM
PMID:9989495 PMID:10380920 PMID:10408400
NCBI chr 3:145,630,017...145,640,121
Ensembl chr 3:145,628,559...145,640,111
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Birc3
baculoviral IAP repeat-containing 3
treatment
ISO
DNA:gene fusion: (human)
RGD
PMID:21465313
RGD:153305955
NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
protein:increased expression: mucosa-associated lymphoid tissue (human)
RGD
PMID:27544389
RGD:152023632
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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H2-Aa
histocompatibility 2, class II antigen A, alpha
treatment
ISO
associated with Helicobacter Infections; DNA:polymorphim, haplotype: :HLA-DQA1*0103 (human)
RGD
PMID:16234023
RGD:5147794
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma
ClinVar
PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 PMID:33060403 PMID:34075200 More...
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Atp6ap1
ATPase, H+ transporting, lysosomal accessory protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chr X:73,340,753...73,348,297
Ensembl chr X:73,340,703...73,348,327
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Atp6v1b2
ATPase, H+ transporting, lysosomal V1 subunit B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chr 8:69,541,388...69,566,370
Ensembl chr 8:69,541,298...69,566,363
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Bcl10
B cell leukemia/lymphoma 10
ISO
ClinVar Annotator: match by term: Follicular lymphoma
ClinVar
PMID:9989495
NCBI chr 3:145,630,017...145,640,121
Ensembl chr 3:145,628,559...145,640,111
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Bcl2
B cell leukemia/lymphoma 2
susceptibility
ISO
DNA:translocation: ;t(14;18)(q32;q21) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:3287162 PMID:12855623 PMID:16671111 PMID:3287162
RGD:1599473 , RGD:734639
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Cd40
CD40 antigen
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
RGD
PMID:20473910
RGD:5490541
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
ISO
human gene in a mouse model
RGD
PMID:25582824
RGD:11344981
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cd79b
CD79B antigen
treatment
ISO
human cells in mouse model
RGD
PMID:17374736
RGD:151665154
NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
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Ebf1
early B cell factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr11:44,502,738...44,898,923
Ensembl chr11:44,508,144...44,898,918
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275
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Irf4
interferon regulatory factor 4
severity
ISO
RGD
PMID:17296585
RGD:11530032
NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959
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Kdsr
3-ketodihydrosphingosine reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25526675 PMID:8417785
RGD:1598985
NCBI chr 1:106,648,140...106,689,544
Ensembl chr 1:106,648,189...106,687,457
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Kmt2d
lysine (K)-specific methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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Myd88
myeloid differentiation primary response gene 88
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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Rarres1
retinoic acid receptor responder (tazarotene induced) 1
IAGP
OMIM:151430
MouseDO
NCBI chr 3:67,386,219...67,422,856
Ensembl chr 3:67,386,305...67,422,856
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Rragc
Ras-related GTP binding C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chr 4:123,811,226...123,830,790
Ensembl chr 4:123,811,239...123,830,790
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Tnfaip3
tumor necrosis factor, alpha-induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405
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Tyms
thymidylate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615
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Csf3r
colony stimulating factor 3 receptor
IAGP ISO
OMIM:162830 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary neutrophilia
MouseDO CTD ClinVar OMIM
PMID:12203110 PMID:19620628 PMID:24753537 PMID:25741868 PMID:26324699 PMID:28492532 More...
NCBI chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233
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Cavin1
caveolae associated 1
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar
PMID:28492532
NCBI chr11:100,847,562...100,861,443
Ensembl chr11:100,847,559...100,861,713
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Il4ra
interleukin 4 receptor, alpha
no_association
ISO
DNA:mutation:cds:p.Q576R(human)
RGD
PMID:9537881
RGD:11530003
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Il6st
interleukin 6 signal transducer
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar
PMID:25741868 PMID:32207811
NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome | ClinVar Annotator: match by term: STAT3-Related Conditions CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 PMID:17881745 PMID:17942886 PMID:18591410 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:19348930 PMID:19577286 PMID:20032313 PMID:20048285 PMID:20093388 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21107604 PMID:21288777 PMID:21300911 PMID:21324546 PMID:21690253 PMID:21792878 PMID:22030463 PMID:22084479 PMID:22126402 PMID:22533245 PMID:22581330 PMID:22591296 PMID:22751495 PMID:22859607 PMID:23342295 PMID:23584561 PMID:23584591 PMID:23659370 PMID:23830147 PMID:23926297 PMID:24033266 PMID:24260974 PMID:24350896 PMID:24452316 PMID:24628715 PMID:24797340 PMID:24837465 PMID:24995504 PMID:25038750 PMID:25349174 PMID:25359994 PMID:25543043 PMID:25586472 PMID:25640679 PMID:25739182 PMID:25741868 PMID:25873174 PMID:25962528 PMID:26384563 PMID:26702067 PMID:26743515 PMID:27091139 PMID:27198716 PMID:27226025 PMID:27302695 PMID:27315770 PMID:27345172 PMID:27379089 PMID:27799162 PMID:27884935 PMID:27980540 PMID:28062691 PMID:28098554 PMID:28197791 PMID:28253502 PMID:28315006 PMID:28356514 PMID:28359783 PMID:28424246 PMID:28492532 PMID:28579554 PMID:28587312 PMID:28628107 PMID:28667753 PMID:28977911 PMID:29077208 PMID:29162862 PMID:29180260 PMID:29296824 PMID:29330115 PMID:29378236 PMID:29803798 PMID:29868029 PMID:29931222 PMID:30092289 PMID:30443250 PMID:30617622 PMID:30910759 PMID:30940614 PMID:31002364 PMID:31069200 PMID:31278738 PMID:31558678 PMID:31596517 PMID:31717342 PMID:31737384 PMID:31770611 PMID:31771617 PMID:31774495 PMID:32047491 PMID:32135276 PMID:32188095 PMID:32231398 PMID:32248557 PMID:32273478 PMID:32499645 PMID:32531373 PMID:32768442 PMID:32888943 PMID:32901917 PMID:32915432 PMID:32944025 PMID:33003453 PMID:33060403 PMID:33225311 PMID:33343952 PMID:33365035 PMID:33579790 PMID:33717144 PMID:34060650 PMID:34075200 PMID:34134972 PMID:34137790 PMID:34366294 PMID:34390446 PMID:34619682 PMID:34796988 PMID:35882439 PMID:36240433 PMID:37081481 PMID:17676033 More...
RGD:6892956
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Stat5a
signal transducer and activator of transcription 5A
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar
PMID:28492532
NCBI chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995
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Stat5b
signal transducer and activator of transcription 5B
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar
PMID:28492532
NCBI chr11:100,671,557...100,741,407
Ensembl chr11:100,671,557...100,741,550
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Ccdc40
coiled-coil domain containing 40
ISO
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
ClinVar
PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 PMID:28492532 More...
NCBI chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064
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Dmrt1
doublesex and mab-3 related transcription factor 1
ISO
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
ClinVar
PMID:28492532
NCBI chr19:25,483,070...25,581,692
Ensembl chr19:25,482,982...25,581,693
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Dock8
dedicator of cytokinesis 8
ISO
ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS DNA:mutation:cds:
OMIM ClinVar RGD
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 PMID:18060736 PMID:19776401 PMID:20004785 PMID:20226292 PMID:20622910 PMID:21324546 PMID:22006977 PMID:22476911 PMID:22534316 PMID:23380217 PMID:23859592 PMID:24033266 PMID:24418481 PMID:24673638 PMID:24797421 PMID:25167861 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26467025 PMID:26573532 PMID:26659092 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27398204 PMID:27457812 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28070732 PMID:28191889 PMID:28492532 PMID:28750028 PMID:29058101 PMID:29483666 PMID:29867916 PMID:30425284 PMID:30564305 PMID:30697212 PMID:31242861 PMID:31596517 PMID:31980526 PMID:32108967 PMID:32135276 PMID:32531373 PMID:32888943 PMID:33251169 PMID:33290277 PMID:33587123 PMID:33809641 PMID:34093558 PMID:34662886 PMID:35753512 PMID:37592284 PMID:21763205 More...
RGD:40907054
NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796
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Kank1
KN motif and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
ClinVar
PMID:28492532
NCBI chr19:25,214,146...25,411,861
Ensembl chr19:25,214,339...25,411,860
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Zng1
Zn regulated GTPase metalloprotein activator 1
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
ClinVar
PMID:33290277
NCBI chr19:24,897,280...24,939,024
Ensembl chr19:24,897,280...24,938,974
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Zfp341
zinc finger protein 341
ISO
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691
NCBI chr 2:154,453,736...154,488,741
Ensembl chr 2:154,455,217...154,488,741
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Il6st
interleukin 6 signal transducer
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28747427 PMID:30309848 PMID:32207811 PMID:33771552 More...
NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620
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Ccdc40
coiled-coil domain containing 40
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar
PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 PMID:28492532 More...
NCBI chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064
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Dmrt1
doublesex and mab-3 related transcription factor 1
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar
PMID:28492532
NCBI chr19:25,483,070...25,581,692
Ensembl chr19:25,482,982...25,581,693
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Dock8
dedicator of cytokinesis 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome | ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
CTD ClinVar
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 PMID:18060736 PMID:19776401 PMID:20004785 PMID:20226292 PMID:20622910 PMID:21324546 PMID:22006977 PMID:22476911 PMID:22534316 PMID:23380217 PMID:23859592 PMID:24033266 PMID:24418481 PMID:24673638 PMID:24797421 PMID:25167861 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26235511 PMID:26467025 PMID:26573532 PMID:26659092 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27398204 PMID:27457812 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28070732 PMID:28191889 PMID:28492532 PMID:28750028 PMID:28890024 PMID:29058101 PMID:29483666 PMID:29867916 PMID:30425284 PMID:30564305 PMID:30697212 PMID:31242861 PMID:31596517 PMID:31980526 PMID:32108967 PMID:32135276 PMID:32531373 PMID:32888943 PMID:33251169 PMID:33290277 PMID:33587123 PMID:33809641 PMID:34093558 PMID:34662886 PMID:35753512 PMID:37592284 More...
NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796
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Dop1a
DOP1 leucine zipper like protein A
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
PMID:24698316
NCBI chr 9:86,349,194...86,436,683
Ensembl chr 9:86,349,207...86,437,976
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16112032
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Kank1
KN motif and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar
PMID:28492532
NCBI chr19:25,214,146...25,411,861
Ensembl chr19:25,214,339...25,411,860
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Pgm3
phosphoglucomutase 3
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
PMID:3500672 PMID:24698316
NCBI chr 9:86,423,997...86,453,927
Ensembl chr 9:86,436,430...86,453,895
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyper-IgE syndrome
CTD ClinVar
PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:20032313 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21792878 PMID:22751495 PMID:24033266 PMID:25038750 PMID:25741868 PMID:26384563 PMID:27226025 PMID:27799162 PMID:27980540 PMID:28098554 PMID:28315006 PMID:28492532 PMID:29077208 PMID:29868029 More...
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Zng1
Zn regulated GTPase metalloprotein activator 1
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar
PMID:33290277
NCBI chr19:24,897,280...24,939,024
Ensembl chr19:24,897,280...24,938,974
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Il6ra
interleukin 6 receptor, alpha
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive
OMIM ClinVar
PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
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Stat6
signal transducer and activator of transcription 6
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
OMIM ClinVar
PMID:36884218 PMID:37316763
NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826
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F5
coagulation factor V
ISO
RGD
PMID:15026880
RGD:1580361
NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
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Fip1l1
factor interacting with PAPOLA and CPSF1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778211 PMID:28347583 PMID:31036733
NCBI chr 5:74,695,774...74,759,451
Ensembl chr 5:74,696,110...74,759,461
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
ISO
DNA:translocation: (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypereosinophilic syndrome, idiopathic, resistant to imatinib | ClinVar Annotator: match by term: Idiopathic hypereosinophilic syndrome
OMIM CTD ClinVar RGD
PMID:9536098 PMID:12660384 PMID:16778211 PMID:17576681 PMID:20071345 PMID:20169295 PMID:22473090 PMID:22703879 PMID:22718859 PMID:23752188 PMID:24033266 PMID:24728327 PMID:25336117 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27854218 PMID:28347583 PMID:28492532 PMID:28873162 PMID:30093976 PMID:30359545 PMID:30389923 PMID:31036733 PMID:33332384 PMID:35101336 PMID:12660384 More...
RGD:9693733
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8896393
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Cldn1
claudin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome DNA:deletion, nonsense mutation:exon:200_201delTT(human)
OMIM CTD ClinVar RGD
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 PMID:15521008 More...
RGD:11341732
NCBI chr16:26,175,395...26,190,589
Ensembl chr16:26,175,392...26,190,591
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Cldn16
claudin 16
ISO
ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
ClinVar
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532
NCBI chr16:26,281,885...26,301,515
Ensembl chr16:26,281,885...26,301,515
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Unc119
unc-119 lipid binding chaperone
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IDIOPATHIC CD4 LYMPHOPENIA
CTD ClinVar
PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr11:78,234,321...78,239,990
Ensembl chr11:78,234,308...78,239,990
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Oas1g
2'-5' oligoadenylate synthetase 1G
ISO
ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia
OMIM ClinVar
PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 PMID:34145065 More...
NCBI chr 5:121,014,205...121,025,676
Ensembl chr 5:121,014,205...121,025,676
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Cebpe
CCAAT/enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: CEBPE-related condition | ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain
OMIM ClinVar
PMID:4831644 PMID:25741868 PMID:28492532 PMID:31201888
NCBI chr14:54,947,823...54,949,604
Ensembl chr14:54,947,817...54,949,631
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Fendrr
Foxf1 adjacent non-coding developmental regulatory RNA
ISO
ClinVar Annotator: match by term: Immunodeficiency 32B
ClinVar
PMID:28492532
NCBI chr 8:121,781,621...121,809,849
Ensembl chr 8:121,781,621...121,809,849
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Foxc2
forkhead box C2
ISO
ClinVar Annotator: match by term: Immunodeficiency 32B
ClinVar
PMID:28492532
NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634
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Foxf1
forkhead box F1
ISO
ClinVar Annotator: match by term: Immunodeficiency 32B
ClinVar
PMID:28492532
NCBI chr 8:121,811,100...121,814,883
Ensembl chr 8:121,811,125...121,814,883
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Irf8
interferon regulatory factor 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunodeficiency 32B
CTD ClinVar OMIM
PMID:6279813 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21524210 PMID:24435047 PMID:25122610 PMID:25741868 PMID:26038974 PMID:27893462 PMID:28492532 PMID:30840779 PMID:32499645 PMID:32901917 PMID:35753512 More...
NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433
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Mthfsd
methenyltetrahydrofolate synthetase domain containing
ISO
ClinVar Annotator: match by term: Immunodeficiency 32B
ClinVar
PMID:28492532
NCBI chr 8:121,818,367...121,835,152
Ensembl chr 8:121,818,367...121,835,131
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Cybb
cytochrome b-245, beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
OMIM CTD ClinVar
PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 PMID:9585602 PMID:10089913 PMID:10914676 PMID:11435314 PMID:12139950 PMID:17293536 PMID:17576681 PMID:18546332 PMID:19483051 PMID:21278736 PMID:23193493 PMID:24276928 PMID:25741868 PMID:28492532 PMID:29560547 PMID:30470980 More...
NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010
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Tyk2
tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 PMID:21680795 PMID:22402565 PMID:24033266 PMID:25388448 PMID:25741868 PMID:25741916 PMID:25849893 PMID:26288847 PMID:26304966 PMID:27615517 PMID:27872624 PMID:28492532 PMID:29725107 PMID:30578352 PMID:31118190 PMID:32537443 PMID:33260630 PMID:33667394 PMID:34569645 PMID:35708626 More...
NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539
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Hyou1
hypoxia up-regulated 1
ISO
ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532
NCBI chr 9:44,290,840...44,303,662
Ensembl chr 9:44,290,787...44,303,666
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Trac
T cell receptor alpha constant
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: TCR-alpha-beta-positive T-cell deficiency
OMIM CTD ClinVar
PMID:21206088 PMID:33909184
NCBI chr14:54,457,978...54,461,655
Ensembl chr14:54,457,978...54,461,663
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Arpc1b
actin related protein 2/3 complex, subunit 1B
ISO
ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27965109 PMID:28368018 PMID:28492532 PMID:29127144 PMID:30254128 PMID:30771411 PMID:31031743 PMID:32499645 PMID:33679784 More...
NCBI chr 5:145,051,066...145,064,996
Ensembl chr 5:145,051,025...145,067,515
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:monocyte, neutrophil, serum:
RGD
PMID:11185989
RGD:11049152
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fasl
Fas ligand
ISO
protein:increased expression:lymphocyte, serum:
RGD
PMID:11185989
RGD:11049152
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
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Foxp3
forkhead box P3
disease_progression
ISO
RGD
PMID:23628056
RGD:38501103
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Gstm1
glutathione S-transferase, mu 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Gstt1
glutathione S-transferase, theta 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*0101 (human)
RGD
PMID:21482926
RGD:40818406
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Il27
interleukin 27
ISO
protein:increased expression:blood serum (human)
RGD
PMID:33571934
RGD:126790542
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Sod2
superoxide dismutase 2, mitochondrial
ISO
RGD
PMID:7964476
RGD:11035288
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Nfatc2
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2
ISO
OMIM
NCBI chr 2:168,318,330...168,443,900
Ensembl chr 2:168,318,330...168,443,577
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Wdr1
WD repeat domain 1
ISO
ClinVar Annotator: match by term: Lazy leukocyte syndrome | ClinVar Annotator: match by term: WDR1-related condition
OMIM ClinVar
PMID:205284 PMID:25741868 PMID:27557945 PMID:27994071 PMID:28492532 PMID:29751004 More...
NCBI chr 5:38,684,149...38,720,265
Ensembl chr 5:38,684,156...38,720,564
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Leukemoid reaction
ClinVar
PMID:18397343 PMID:20400977 PMID:28492532
NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Fermt3
fermitin family member 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:6,976,326...6,996,837
Ensembl chr19:6,976,326...6,996,837
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Itgb2
integrin beta 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukocyte adhesion deficiency DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human) DNA:mutations:multiple DNA:mutation:exon:p.R188X(human) DNA:mutations:cds:p.D231H, G284S (human)
CTD ClinVar RGD
PMID:9653089 PMID:1968911 PMID:14512306 PMID:20549317 PMID:21103413 PMID:10886250 More...
RGD:1600220 , RGD:6482225 , RGD:6482224 , RGD:6482223 , RGD:6482222
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Fermt3
fermitin family member 3
ISO
DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human)
RGD
PMID:19064721
RGD:11352306
NCBI chr19:6,976,326...6,996,837
Ensembl chr19:6,976,326...6,996,837
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Itgb2
integrin beta 2
susceptibility
ISO IAGP
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 CTD Direct Evidence: marker/mechanism DNA:polymorphisms:multiple (human) OMIM:116920
OMIM ClinVar CTD MouseDO RGD
PMID:1346132 PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 PMID:1968911 PMID:6142255 PMID:7143170 PMID:7686755 PMID:7705401 PMID:7901025 PMID:9536098 PMID:9884339 PMID:10886250 PMID:11703376 PMID:11882363 PMID:12377933 PMID:12488604 PMID:14512306 PMID:16199547 PMID:16595236 PMID:17576681 PMID:17875809 PMID:18675632 PMID:19171538 PMID:20549317 PMID:20807363 PMID:21103413 PMID:21195692 PMID:22134107 PMID:24033266 PMID:24338230 PMID:25135596 PMID:25514840 PMID:25703682 PMID:25741868 PMID:25858935 PMID:26497373 PMID:26639818 PMID:27492259 PMID:28445705 PMID:28492532 PMID:30041527 PMID:30412664 PMID:30919141 PMID:32279896 PMID:33391282 PMID:36353617 PMID:20549317 More...
RGD:6482224
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Ttn
titin
ISO
ClinVar Annotator: match by term: LEUKOCYTE ADHESION DEFICIENCY, TYPE I
ClinVar
PMID:9536098 PMID:17576681 PMID:25589632 PMID:26639818 PMID:27493940 PMID:28492532 PMID:32778822 More...
NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891
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Ahnak
AHNAK nucleoprotein
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,966,640...9,054,299
Ensembl chr19:8,966,648...9,054,278
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Arl2
ADP-ribosylation factor-like 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,184,419...6,191,167
Ensembl chr19:6,184,404...6,191,578
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Asrgl1
asparaginase like 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:9,089,083...9,112,930
Ensembl chr19:9,087,232...9,113,000
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Atg2a
autophagy related 2A
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,291,508...6,312,332
Ensembl chr19:6,291,698...6,312,365
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Atl3
atlastin GTPase 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,471,178...7,515,974
Ensembl chr19:7,471,405...7,517,039
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B3gat3
beta-1,3-glucuronyltransferase 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,897,740...8,904,600
Ensembl chr19:8,897,738...8,904,600
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Bad
BCL2-associated agonist of cell death
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267
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Batf2
basic leucine zipper transcription factor, ATF-like 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,214,424...6,222,506
Ensembl chr19:6,191,013...6,222,506
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Best1
bestrophin 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047
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Capn1
calpain 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,038,573...6,065,855
Ensembl chr19:6,038,573...6,065,927
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Catsperz
cation channel sperm associated auxiliary subunit zeta
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,899,794...6,902,748
Ensembl chr19:6,899,739...6,902,748
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Cblif
cobalamin binding intrinsic factor
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,724,907...11,740,811
Ensembl chr19:11,724,918...11,740,811
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Ccdc86
coiled-coil domain containing 86
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,918,845...10,926,630
Ensembl chr19:10,918,845...10,926,630
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Ccdc88b
coiled-coil domain containing 88B
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,821,991...6,835,586
Ensembl chr19:6,821,991...6,835,579
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Cd5
CD5 antigen
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,695,471...10,716,390
Ensembl chr19:10,694,480...10,716,366
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Cd6
CD6 antigen
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,766,703...10,807,427
Ensembl chr19:10,766,705...10,807,422
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Cdc42bpg
CDC42 binding protein kinase gamma
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,356,465...6,375,682
Ensembl chr19:6,356,486...6,375,682
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Cdca5
cell division cycle associated 5
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,135,127...6,141,803
Ensembl chr19:6,135,013...6,141,807
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Chrm1
cholinergic receptor, muscarinic 1, CNS
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,641,369...8,660,970
Ensembl chr19:8,641,153...8,660,951
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Cox8a
cytochrome c oxidase subunit 8A
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,192,523...7,194,981
Ensembl chr19:7,192,518...7,194,981
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Cpsf7
cleavage and polyadenylation specific factor 7
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,502,594...10,525,099
Ensembl chr19:10,502,630...10,525,017
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Cyb561a3
cytochrome b561 family, member A3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,554,521...10,574,196
Ensembl chr19:10,554,536...10,573,325
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Dagla
diacylglycerol lipase, alpha
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,222,629...10,282,323
Ensembl chr19:10,222,629...10,282,241
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Ddb1
damage specific DNA binding protein 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,582,961...10,607,186
Ensembl chr19:10,582,691...10,607,183
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Dnajc4
DnaJ heat shock protein family (Hsp40) member C4
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,965,279...6,969,954
Ensembl chr19:6,965,279...6,969,940
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Dtx4
deltex 4, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:12,443,700...12,479,509
Ensembl chr19:12,443,702...12,478,818
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Eef1g
eukaryotic translation elongation factor 1 gamma
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,944,405...8,955,544
Ensembl chr19:8,944,405...8,955,843
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Ehd1
EH-domain containing 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,326,926...6,350,126
Ensembl chr19:6,326,755...6,350,126
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Eml3
echinoderm microtubule associated protein like 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,904,584...8,918,946
Ensembl chr19:8,906,916...8,918,946
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Esrra
estrogen related receptor, alpha
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,888,345...6,899,182
Ensembl chr19:6,888,345...6,899,208
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Fads1
fatty acid desaturase 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,160,245...10,174,238
Ensembl chr19:10,160,252...10,174,241
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Fads2
fatty acid desaturase 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,040,129...10,078,867
Ensembl chr19:10,040,129...10,079,110
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Fads3
fatty acid desaturase 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,018,189...10,037,477
Ensembl chr19:10,018,933...10,037,474
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Fam111a
family with sequence similarity 111, member A
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:12,550,874...12,567,133
Ensembl chr19:12,523,104...12,567,132
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Fau
FAU ubiquitin like and ribosomal protein S30 fusion
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,107,977...6,109,554
Ensembl chr19:6,107,874...6,109,554
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Fen1
flap structure specific endonuclease 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,176,496...10,181,757
Ensembl chr19:10,176,496...10,181,533
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Fermt3
fermitin family member 3
ISO IAGP
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 CTD Direct Evidence: marker/mechanism OMIM:612840 DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human)
OMIM ClinVar CTD MouseDO RGD
PMID:9536098 PMID:12511588 PMID:16199547 PMID:17576681 PMID:18779414 PMID:19064721 PMID:19234460 PMID:19234463 PMID:20357244 PMID:21441448 PMID:22134107 PMID:22564402 PMID:24033266 PMID:25741868 PMID:28492532 PMID:19234463 More...
RGD:11352305
NCBI chr19:6,976,326...6,996,837
Ensembl chr19:6,976,326...6,996,837
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Fkbp2
FK506 binding protein 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,955,105...6,957,832
Ensembl chr19:6,955,109...6,957,869
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Flrt1
fibronectin leucine rich transmembrane protein 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,064,829...7,143,548
Ensembl chr19:7,069,366...7,083,094
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Fth1
ferritin heavy polypeptide 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462
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Ganab
alpha glucosidase 2 alpha neutral subunit
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,875,440...8,894,098
Ensembl chr19:8,875,435...8,894,036
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Gm23389
predicted gene, 23389
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr 1:94,543,361...94,543,429
Ensembl chr 1:94,543,361...94,543,429
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Gm24452
predicted gene, 24452
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,701,896...8,701,965
Ensembl chr19:8,701,895...8,701,966
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Gm25855
predicted gene, 25855
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,701,357...8,701,428
Ensembl chr19:8,701,357...8,701,428
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Gm25894
predicted gene, 25894
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,701,615...8,701,689
Ensembl chr19:8,701,615...8,701,689
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Gm38656
predicted gene, 38656
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:9,162,589...9,164,383
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Gng3
guanine nucleotide binding protein (G protein), gamma 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,814,293...8,816,610
Ensembl chr19:8,814,297...8,816,558
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Gpha2
glycoprotein hormone alpha 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,276,431...6,277,798
Ensembl chr19:6,276,410...6,277,798
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Gpr137
G protein-coupled receptor 137
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,915,425...6,919,818
Ensembl chr19:6,915,425...6,919,848
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Hnrnpul2
heterogeneous nuclear ribonucleoprotein U-like 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,796,765...8,811,507
Ensembl chr19:8,797,374...8,811,507
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Incenp
inner centromere protein
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:9,849,659...9,876,853
Ensembl chr19:9,849,660...9,876,915
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Ints5
integrator complex subunit 5
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,870,351...8,875,254
Ensembl chr19:8,870,369...8,875,252
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Itgb2
integrin beta 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:25741868
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Kcnk4
potassium channel, subfamily K, member 4
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,903,030...6,912,261
Ensembl chr19:6,901,334...6,911,883
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Lbhd1
LBH domain containing 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,861,242...8,868,123
Ensembl chr19:8,861,096...8,869,991
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Lgals12
lectin, galactose binding, soluble 12
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,574,021...7,584,601
Ensembl chr19:7,574,025...7,584,558
G
Lrrc10b
leucine rich repeat containing 10B
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,432,735...10,434,811
Ensembl chr19:10,432,735...10,434,837
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Lrrn4cl
LRRN4 C-terminal like
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,828,132...8,831,273
Ensembl chr19:8,828,132...8,831,273
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Macrod1
mono-ADP ribosylhydrolase 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,034,065...7,175,427
Ensembl chr19:7,034,178...7,175,422
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Majin
membrane anchored junction protein
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,234,358...6,274,349
Ensembl chr19:6,234,418...6,274,255
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Map4k2
mitogen-activated protein kinase kinase kinase kinase 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,391,023...6,405,649
Ensembl chr19:6,391,165...6,405,645
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Mark2
MAP/microtubule affinity regulating kinase 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,252,761...7,319,222
Ensembl chr19:7,252,761...7,319,225
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Men1
multiple endocrine neoplasia 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
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Mir192
microRNA 192
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,314,874...6,314,962
Ensembl chr19:6,314,874...6,314,962
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Mir194-2
microRNA 194-2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,314,673...6,314,758
Ensembl chr19:6,314,673...6,314,758
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Mpeg1
macrophage expressed gene 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:12,438,134...12,442,649
Ensembl chr19:12,438,143...12,442,647
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Mrpl16
mitochondrial ribosomal protein L16
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,747,779...11,752,320
Ensembl chr19:11,747,755...11,752,324
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Mrpl49
mitochondrial ribosomal protein L49
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,103,660...6,107,785
Ensembl chr19:6,103,652...6,107,815
G
Ms4a1
membrane-spanning 4-domains, subfamily A, member 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605
G
Ms4a10
membrane-spanning 4-domains, subfamily A, member 10
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,939,653...10,952,088
Ensembl chr19:10,939,657...10,952,034
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Ms4a12
membrane-spanning 4-domains, subfamily A, member 12
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,191,392...11,209,846
Ensembl chr19:11,191,446...11,209,812
G
Ms4a13
membrane-spanning 4-domains, subfamily A, member 13
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,146,782...11,174,101
Ensembl chr19:11,146,782...11,174,101
G
Ms4a14
membrane-spanning 4-domains, subfamily A, member 14
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,278,613...11,293,239
Ensembl chr19:11,278,613...11,291,818
G
Ms4a15
membrane-spanning 4-domains, subfamily A, member 15
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,955,667...10,970,614
Ensembl chr19:10,955,671...10,970,614
G
Ms4a18
membrane-spanning 4-domains, subfamily A, member 18
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,974,388...10,995,390
Ensembl chr19:10,974,389...10,995,395
G
Ms4a2
membrane-spanning 4-domains, subfamily A, member 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,592,881...11,601,154
Ensembl chr19:11,592,887...11,601,083
G
Ms4a3
membrane-spanning 4-domains, subfamily A, member 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,606,863...11,618,215
Ensembl chr19:11,606,860...11,618,215
G
Ms4a4a
membrane-spanning 4-domains, subfamily A, member 4A
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,352,827...11,370,682
Ensembl chr19:11,352,887...11,370,154
G
Ms4a5
membrane-spanning 4-domains, subfamily A, member 5
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,251,514...11,261,259
Ensembl chr19:11,250,602...11,261,237
G
Ms4a6c
membrane-spanning 4-domains, subfamily A, member 6C
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,446,718...11,464,433
Ensembl chr19:11,446,730...11,459,556
G
Ms4a7
membrane-spanning 4-domains, subfamily A, member 7
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,298,403...11,313,510
Ensembl chr19:11,298,403...11,313,510
G
Ms4a8a
membrane-spanning 4-domains, subfamily A, member 8A
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,044,835...11,058,467
Ensembl chr19:11,044,835...11,058,466
G
Mta2
metastasis-associated gene family, member 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,919,239...8,929,659
Ensembl chr19:8,919,239...8,929,667
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Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112
G
Naa40
N(alpha)-acetyltransferase 40, NatD catalytic subunit
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,203,033...7,218,587
Ensembl chr19:7,203,033...7,218,548
G
Naaladl1
N-acetylated alpha-linked acidic dipeptidase-like 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,155,811...6,166,019
Ensembl chr19:6,155,812...6,165,822
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Nrxn2
neurexin II
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,468,786...6,583,247
Ensembl chr19:6,468,761...6,594,199
G
Nudt22
nudix hydrolase 22
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,970,387...6,973,471
Ensembl chr19:6,970,386...6,973,485
G
Nxf1
nuclear RNA export factor 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,734,467...8,748,274
Ensembl chr19:8,734,437...8,748,286
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Oosp2
oocyte secreted protein 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,624,648...11,637,923
Ensembl chr19:11,624,643...11,637,923
G
Or10v1
olfactory receptor family 10 subfamily V member 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,873,387...11,874,316
Ensembl chr19:11,863,929...11,875,443
G
Or4d10
olfactory receptor family 4 subfamily D member 10
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:12,051,059...12,051,994
Ensembl chr19:12,050,598...12,055,095
G
Or4d10b
olfactory receptor family 4 subfamily D member 10B
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:12,036,173...12,037,114
Ensembl chr19:12,035,988...12,040,046
G
Or4d11
olfactory receptor family 4 subfamily D member 11
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:12,013,172...12,014,104
Ensembl chr19:12,009,151...12,018,681
G
Or4d6
olfactory receptor family 4 subfamily D member 6
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:12,085,964...12,093,192
Ensembl chr19:12,085,080...12,093,261
G
Or5a1
olfactory receptor family 5 subfamily A member 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:12,097,085...12,098,038
Ensembl chr19:12,095,360...12,100,567
G
Or5a21
olfactory receptor family 5 subfamily A member 21
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:12,310,259...12,311,218
Ensembl chr19:12,306,786...12,313,274
G
Or5an9
olfactory receptor family 5 subfamily AN member 9
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:12,186,932...12,187,870
Ensembl chr19:12,177,998...12,189,555
G
Osbp
oxysterol binding protein
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,943,208...11,971,478
Ensembl chr19:11,943,305...11,971,476
G
Otub1
OTU domain, ubiquitin aldehyde binding 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,175,571...7,183,649
Ensembl chr19:7,175,567...7,183,681
G
Patl1
protein associated with topoisomerase II homolog 1 (yeast)
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,889,728...11,922,462
Ensembl chr19:11,889,763...11,922,455
G
Pga5
pepsinogen 5, group I
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,646,321...10,655,435
Ensembl chr19:10,646,320...10,655,435
G
Plaat3
phospholipase A and acyltransferase 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,534,824...7,565,914
Ensembl chr19:7,534,824...7,565,910
G
Plaat5
phospholipase A and acyltransferase 5
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,589,902...7,618,405
Ensembl chr19:7,589,906...7,617,007
G
Plcb3
phospholipase C, beta 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,931,081...6,951,738
Ensembl chr19:6,929,693...6,953,838
G
Polr2g
polymerase (RNA) II (DNA directed) polypeptide G
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,770,493...8,775,921
Ensembl chr19:8,770,491...8,775,941
G
Ppp1r14b
protein phosphatase 1, regulatory inhibitor subunit 14B
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,952,416...6,954,692
Ensembl chr19:6,952,336...6,954,692
G
Ppp2r5b
protein phosphatase 2, regulatory subunit B', beta
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,277,795...6,286,294
Ensembl chr19:6,277,795...6,285,902
G
Prdx5
peroxiredoxin 5
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,884,065...6,887,474
Ensembl chr19:6,884,065...6,887,474
G
Prpf19
pre-mRNA processing factor 19
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,872,595...10,886,923
Ensembl chr19:10,872,595...10,886,923
G
Ptgdr2
prostaglandin D2 receptor 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,901,883...10,919,875
Ensembl chr19:10,914,524...10,919,875
G
Pygm
muscle glycogen phosphorylase
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,434,438...6,448,494
Ensembl chr19:6,434,429...6,448,489
G
Rab3il1
RAB3A interacting protein (rabin3)-like 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:9,979,033...10,015,744
Ensembl chr19:9,979,033...10,015,744
G
Rasgrp2
RAS, guanyl releasing protein 2
IAGP ISO
OMIM:612840 ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
MouseDO ClinVar
PMID:28492532
NCBI chr19:6,449,038...6,465,243
Ensembl chr19:6,449,370...6,465,246
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Rcor2
REST corepressor 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,244,759...7,252,590
Ensembl chr19:7,244,690...7,252,590
G
Rom1
rod outer segment membrane protein 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,904,746...8,906,720
Ensembl chr19:8,904,755...8,906,720
G
Rps6ka4
ribosomal protein S6 kinase, polypeptide 4
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,806,573...6,819,513
Ensembl chr19:6,806,578...6,818,004
G
Rtn3
reticulon 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,403,260...7,460,656
Ensembl chr19:7,403,266...7,460,646
G
Sac3d1
SAC3 domain containing 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,166,025...6,168,689
Ensembl chr19:6,166,030...6,168,680
G
Saxo4
stabilizer of axonemal microtubules 4
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,451,599...10,463,826
Ensembl chr19:10,451,599...10,460,292
G
Scgb1a1
secretoglobin, family 1A, member 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
G
Scgb2a2
secretoglobin, family 2A, member 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:9,824,922...9,829,564
Ensembl chr19:9,824,926...9,830,172
G
Sdhaf2
succinate dehydrogenase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,477,876...10,502,573
Ensembl chr19:10,477,898...10,503,506
G
Sf1
splicing factor 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,413,952...6,428,060
Ensembl chr19:6,413,720...6,428,060
G
Slc15a3
solute carrier family 15, member 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,819,908...10,835,279
Ensembl chr19:10,817,091...10,836,726
G
Slc22a12
solute carrier family 22 (organic anion/cation transporter), member 12
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,585,884...6,593,100
Ensembl chr19:6,585,875...6,593,062
G
Slc22a19
solute carrier family 22 (organic anion transporter), member 19
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,650,440...7,688,675
Ensembl chr19:7,650,426...7,688,675
G
Slc22a6
solute carrier family 22 (organic anion transporter), member 6
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,595,360...8,605,663
Ensembl chr19:8,595,403...8,605,663
G
Slc22a8
solute carrier family 22 (organic anion transporter), member 8
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,568,576...8,589,199
Ensembl chr19:8,568,618...8,589,199
G
Slc3a2
solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,684,931...8,700,733
Ensembl chr19:8,684,246...8,700,733
G
Snord22
small nucleolar RNA, C/D box 22
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,703,230...8,703,355
Ensembl chr19:8,703,230...8,703,355
G
Snx15
sorting nexin 15
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,169,429...6,182,446
Ensembl chr19:6,169,429...6,178,334
G
Spindoc
spindlin interactor and repressor of chromatin binding
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,333,828...7,364,491
Ensembl chr19:7,331,443...7,360,359
G
Stip1
stress-induced phosphoprotein 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,998,064...7,017,394
Ensembl chr19:6,998,070...7,017,335
G
Stx3
syntaxin 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:11,752,482...11,798,933
Ensembl chr19:11,752,482...11,796,767
G
Stx5a
syntaxin 5A
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,718,788...8,733,006
Ensembl chr19:8,718,777...8,733,433
G
Syt7
synaptotagmin VII
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,366,142...10,430,545
Ensembl chr19:10,366,454...10,430,544
G
Syvn1
synovial apoptosis inhibitor 1, synoviolin
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,096,586...6,103,748
Ensembl chr19:6,096,606...6,103,742
G
Taf6l
TATA-box binding protein associated factor 6 like
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,751,718...8,763,781
Ensembl chr19:8,751,851...8,763,781
G
Tkfc
triokinase, FMN cyclase
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,565,153...10,583,257
Ensembl chr19:10,565,155...10,583,018
G
Tm7sf2
transmembrane 7 superfamily member 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,112,851...6,117,880
Ensembl chr19:6,112,851...6,118,403
G
Tmem109
transmembrane protein 109
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,848,021...10,859,107
Ensembl chr19:10,848,024...10,859,365
G
Tmem132a
transmembrane protein 132A
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,835,193...10,847,569
Ensembl chr19:10,835,186...10,847,304
G
Tmem138
transmembrane protein 138
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,547,842...10,554,765
Ensembl chr19:10,547,842...10,554,726
G
Tmem179b
transmembrane protein 179B
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,749,886...8,751,831
Ensembl chr19:8,749,889...8,751,831
G
Tmem216
transmembrane protein 216
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,516,690...10,533,663
Ensembl chr19:10,511,229...10,533,602
G
Tmem223
transmembrane protein 223
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,748,360...8,749,839
Ensembl chr19:8,748,360...8,749,839
G
Tmem258
transmembrane protein 258
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,181,566...10,185,188
Ensembl chr19:10,181,378...10,185,188
G
Trmt112
tRNA methyltransferase 11-2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,887,066...6,888,396
Ensembl chr19:6,887,066...6,888,417
G
Trpt1
tRNA phosphotransferase 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,970,046...6,977,689
Ensembl chr19:6,973,499...6,976,414
G
Ttc9c
tetratricopeptide repeat domain 9C
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,786,430...8,797,270
Ensembl chr19:8,786,439...8,796,697
G
Tut1
terminal uridylyl transferase 1, U6 snRNA-specific
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,931,199...8,943,572
Ensembl chr19:8,931,211...8,943,574
G
Ubxn1
UBX domain protein 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,848,912...8,853,030
Ensembl chr19:8,848,860...8,853,227
G
Uqcc3
ubiquinol-cytochrome c reductase complex assembly factor 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,857,378...8,858,297
Ensembl chr19:8,857,378...8,858,287
G
Vegfb
vascular endothelial growth factor B
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,959,840...6,965,019
Ensembl chr19:6,959,841...6,965,019
G
Vps37c
vacuolar protein sorting 37C
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,666,095...10,691,992
Ensembl chr19:10,666,099...10,691,991
G
Vps51
VPS51 GARP complex subunit
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,117,872...6,127,217
Ensembl chr19:6,117,872...6,127,261
G
Vwce
von Willebrand factor C and EGF domains
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,611,582...10,643,577
Ensembl chr19:10,611,577...10,643,577
G
Wdr74
WD repeat domain 74
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,713,159...8,717,988
Ensembl chr19:8,713,191...8,717,988
G
Zbtb3
zinc finger and BTB domain containing 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:8,779,853...8,783,035
Ensembl chr19:8,779,919...8,782,210
G
Zfpl1
zinc finger like protein 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,130,792...6,134,961
Ensembl chr19:6,130,792...6,134,986
G
Zfta
zinc finger translocation associated
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:7,394,981...7,403,273
Ensembl chr19:7,394,990...7,403,269
G
Znhit2
zinc finger, HIT domain containing 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:6,111,237...6,112,498
Ensembl chr19:6,111,222...6,112,502
G
Zp1
zona pellucida glycoprotein 1
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar
PMID:28492532
NCBI chr19:10,891,660...10,897,965
Ensembl chr19:10,891,651...10,897,996
G
Apc
APC, WNT signaling pathway regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
G
Csf3
colony stimulating factor 3 (granulocyte)
ISO
associated with neoplasms;
RGD
PMID:18756972
RGD:11039421
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
G
Csf3r
colony stimulating factor 3 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19620628
NCBI chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233
G
Flt3
FMS-like tyrosine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27099147 PMID:27725143
NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299
G
Il1b
interleukin 1 beta
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1884014 PMID:19633061 PMID:1581467
RGD:4142837 , RGD:10450884
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il1rn
interleukin 1 receptor antagonist
ISO
associated with Meningitis, Listeria;
RGD
PMID:10085034
RGD:11522759
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
G
Itga4
integrin alpha 4
ISO
RGD
PMID:12626659
RGD:9698418
NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467
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Kng2
kininogen 2
ISO
RGD
PMID:5116037
RGD:11059893
NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232
G
Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
G
Npy5r
neuropeptide Y receptor Y5
ISO
RGD
PMID:12417430
RGD:729324
NCBI chr 8:67,132,617...67,140,746
Ensembl chr 8:67,132,617...67,140,780
G
Nras
neuroblastoma ras oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
G
Aspg
asparaginase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2187653
NCBI chr12:112,073,117...112,094,007
Ensembl chr12:112,073,113...112,093,993
G
Csf3
colony stimulating factor 3 (granulocyte)
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:7543699 PMID:16076697 PMID:16120623 PMID:16937080
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Cxcr4
C-X-C motif chemokine receptor 4
treatment
ISO
associated with WHIM Syndrome; DNA:nonsense mutation: cds:p.R334X(human)
RGD
PMID:21890643
RGD:6480654
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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Gstm1
glutathione S-transferase, mu 1
susceptibility
ISO
RGD
PMID:19555437
RGD:10450844
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
G
Gstt1
glutathione S-transferase, theta 1
susceptibility
ISO
RGD
PMID:19555437
RGD:10450844
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
G
Il2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7678812
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
G
Il3
interleukin 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8202718
NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19648163
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
G
Nat2
N-acetyltransferase 2 (arylamine N-acetyltransferase)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12795783
NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
G
Nudt15
nudix hydrolase 15
IAGP
MouseDO
NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682
G
Plat
plasminogen activator, tissue
ISO
associated with Sepsis;protein:decreased expression:plasma (human)
RGD
PMID:7646991
RGD:11552575
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
G
Pnpt1
polyribonucleotide nucleotidyltransferase 1
ISO
ClinVar Annotator: match by term: Leukopenia
ClinVar
PMID:25741868 PMID:29987015 PMID:33158637
NCBI chr11:29,080,236...29,112,010
Ensembl chr11:29,080,744...29,111,828
G
Thoc5
THO complex 5
IMP
RGD
PMID:20051105
RGD:2317224
NCBI chr11:4,845,339...4,878,867
Ensembl chr11:4,845,320...4,878,867
G
Tpmt
thiopurine methyltransferase
no_association
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :multiple DNA:SNP:exon:719A>G (human)
CTD RGD
PMID:18662289 PMID:22535280 PMID:25108385 PMID:16044099 PMID:20308917 PMID:20308917 PMID:24322830 More...
RGD:11038721 , RGD:11038727 , RGD:11038727 , RGD:11038725
NCBI chr13:47,175,463...47,196,833
Ensembl chr13:47,175,958...47,198,213
G
Ace
angiotensin I converting enzyme
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:16822509
RGD:11039403
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
G
Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28294475
NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299
G
Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10485912
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
G
Pparg
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12468449
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
G
Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
treatment
ISO
associated with Diabetic Retinopathy; human protein in a rat model
RGD
PMID:16797605
RGD:8554884
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Aicda
activation-induced cytidine deaminase
disease_progression
ISO
RGD
PMID:18090274
RGD:32716407
NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
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Csf2
colony stimulating factor 2 (granulocyte-macrophage)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7680712 PMID:9817281
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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Csf3
colony stimulating factor 3 (granulocyte)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12176798
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Sdc1
syndecan 1
ISO
protein:altered expression:tumor (human)
RGD
PMID:11157493
RGD:9743929
NCBI chr12:8,821,396...8,843,716
Ensembl chr12:8,821,323...8,843,715
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Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:26325374
RGD:11062098
NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
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Ada
adenosine deaminase
IMP
RGD
PMID:9478961
RGD:1300251
NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
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Atg5
autophagy related 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26568842
NCBI chr10:44,144,325...44,240,295
Ensembl chr10:44,144,354...44,240,287
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Atg7
autophagy related 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26568842
NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575
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Cbl
Casitas B-lineage lymphoma
onset
IMP
RGD
PMID:20404156
RGD:11038797
NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346
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Ccl28
C-C motif chemokine ligand 28
ISO
protein:decreased expression:small intestine villus (rat)
RGD
PMID:19393265
RGD:4892224
NCBI chr13:120,085,355...120,115,895
Ensembl chr13:120,085,355...120,115,895
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Cd28
CD28 antigen
ISO
RGD
PMID:12750179
RGD:2307205
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Csf1r
colony stimulating factor 1 receptor
ISO
RGD
PMID:30249809
RGD:41404725
NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
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Dkc1
dyskeratosis congenita 1, dyskerin
IMP
RGD
PMID:12522253
RGD:11251731
NCBI chr X:74,139,460...74,153,382
Ensembl chr X:74,139,460...74,153,383
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Ednrb
endothelin receptor type B
ISO
RGD
PMID:22975636
RGD:7207471
NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838
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Fcgr3
Fc receptor, IgG, low affinity III
susceptibility
ISO
associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human)
RGD
PMID:17596285
RGD:5508454
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Fcgr4
Fc receptor, IgG, low affinity IV
susceptibility
ISO
associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human)
RGD
PMID:17596285
RGD:5508454
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Gimap5
GTPase, IMAP family member 5
ISO
DNA:frameshift deletion (rat)
RGD
PMID:12097339
RGD:619544
NCBI chr 6:48,723,131...48,731,134
Ensembl chr 6:48,723,131...48,731,144
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Hoxd13
homeobox D13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr 2:74,498,569...74,501,947
Ensembl chr 2:74,498,654...74,501,943
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1884014
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il2ra
interleukin 2 receptor, alpha chain
ISO
IL2RA/CD25 Deficiency, OMIM:606367
RGD
PMID:9096364
RGD:1600117
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
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Il7
interleukin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17151827
NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Lymphopenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Lbr
lamin B receptor
IAGP
DNA:point mutation
RGD
PMID:22105998
RGD:11062006
NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611
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Myh7
myosin, heavy polypeptide 7, cardiac muscle, beta
ISO
ClinVar Annotator: match by term: Lymphopenia
ClinVar
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:21310275 PMID:22857948 PMID:22975586 PMID:23233322 PMID:23283745 PMID:23299917 PMID:24033266 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083
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Mysm1
myb-like, SWIRM and MPN domains 1
IMP
RGD
PMID:22184403
RGD:9589161
NCBI chr 4:94,830,274...94,867,392
Ensembl chr 4:94,830,277...94,867,337
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Nek1
NIMA (never in mitosis gene a)-related expressed kinase 1
ISO
ClinVar Annotator: match by term: Lymphopenia
ClinVar
PMID:25741868 PMID:28089114 PMID:28492532
NCBI chr 8:61,446,184...61,584,383
Ensembl chr 8:61,446,229...61,584,380
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Nup98
nucleoporin 98
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr 7:101,768,607...101,859,359
Ensembl chr 7:101,768,605...101,859,383
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Slc34a1
solute carrier family 34 (sodium phosphate), member 1
ISO
ClinVar Annotator: match by term: Lymphopenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405
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Tnf
tumor necrosis factor
ISO
associated with HIV Infections;protein:increased expression:serum
RGD
PMID:2324681
RGD:10450888
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Vav1
vav 1 oncogene
ISO
mRNA, protein:increased expression:thymus
RGD
PMID:10433093
RGD:2306005
NCBI chr17:57,586,080...57,636,236
Ensembl chr17:57,586,100...57,635,031
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Cxcr4
C-X-C motif chemokine receptor 4
disease_progression
ISO
DNA:mutation:cds:1013C>G(p.S338X)(human)
RGD
PMID:24711662
RGD:11352304
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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Fcgr4
Fc receptor, IgG, low affinity IV
disease_progression treatment
ISO
DNA:polymorphism: : DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:21564078 PMID:15659493
RGD:11040774 , RGD:11352262
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:bone marrow
RGD
PMID:32763516
RGD:401827827
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Il10
interleukin 10
ISO
DNA:SNPs: :multiple
RGD
PMID:19573080
RGD:11049165
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il6
interleukin 6
no_association
ISO
DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human) DNA:SNPs: :multiple
RGD
PMID:19573080 PMID:19573080
RGD:11049165 , RGD:11049165
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Irf4
interferon regulatory factor 4
ISO
RGD
PMID:23355206
RGD:11530052
NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959
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Myd88
myeloid differentiation primary response gene 88
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic
CTD ClinVar OMIM
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 PMID:30126942 More...
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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4930550C14Rik
RIKEN cDNA 4930550C14 gene
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:28492532
NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
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Ak1
adenylate kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chr 2:32,511,770...32,525,070
Ensembl chr 2:32,511,770...32,525,070
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Arhgap29
Rho GTPase activating protein 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17488656
NCBI chr 3:121,746,752...121,810,326
Ensembl chr 3:121,746,190...121,810,402
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Atm
ataxia telangiectasia mutated
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Btk
Bruton agammaglobulinemia tyrosine kinase
treatment
ISO
RGD
PMID:23045577
RGD:11040699
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr16:27,205,815...27,270,968
Ensembl chr16:27,207,619...27,270,968
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Ccnd1
cyclin D1
ISO
mRNA:increased expression:bone marrow, peripheral blood (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22383795 PMID:26174628 PMID:24060591
RGD:11352827
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Cd79b
CD79B antigen
treatment
ISO
protein:decreased expression:blood, B cell (human) human cells in mouse model
RGD
PMID:10329919 PMID:17374736
RGD:11531139 , RGD:151665154
NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Eif4e
eukaryotic translation initiation factor 4E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 3:138,231,952...138,265,457
Ensembl chr 3:138,231,940...138,265,457
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Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 8:27,750,355...27,765,684
Ensembl chr 8:27,750,357...27,766,702
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Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr16:37,909,363...38,066,446
Ensembl chr16:37,909,363...38,066,446
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
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Pramex1
PRAME like, X-linked 1
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454
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Tnfrsf10b
tumor necrosis factor receptor superfamily, member 10b
susceptibility
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) DNA:SNP:exon:626C>G, 1322A>G (human)
RGD
PMID:16217763 PMID:15531454
RGD:11038717 , RGD:11038718
NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860
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Wnt10a
wingless-type MMTV integration site family, member 10A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338
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Wnt3
wingless-type MMTV integration site family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr11:103,665,000...103,708,854
Ensembl chr11:103,664,976...103,708,783
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Bcl10
B cell leukemia/lymphoma 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:145,630,017...145,640,121
Ensembl chr 3:145,628,559...145,640,111
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Gfi1
growth factor independent 1 transcription repressor
disease_progression
IEP
RGD
PMID:15231650
RGD:1581305
NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902
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H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQA1*0103 (human)
RGD
PMID:16234023
RGD:5147794
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601 (human)
RGD
PMID:16234023
RGD:5147794
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Trp53
transformation related protein 53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Mast cell leukemia
ClinVar
PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 PMID:11380399 PMID:11493470 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:21689725 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Foxf1
forkhead box F1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18421012
NCBI chr 8:121,811,100...121,814,883
Ensembl chr 8:121,811,125...121,814,883
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Il13
interleukin 13
ISO
DNA:SNP:promoter:-1112C>T (rs1800925) (human)
RGD
PMID:19178408
RGD:8549523
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il2rb
interleukin 2 receptor, beta chain
IDA
RGD
PMID:21301182
RGD:42724469
NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471
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Il4ra
interleukin 4 receptor, alpha
IMP
RGD
PMID:23149659
RGD:7829822
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Il5ra
interleukin 5 receptor, alpha
ISO
RGD
PMID:21762978
RGD:11354970
NCBI chr 6:106,687,336...106,725,998
Ensembl chr 6:106,687,318...106,725,998
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Mast cell disease | ClinVar Annotator: match by term: Mastocytosis CTD Direct Evidence: marker/mechanism associated with Hematologic Diseases;mRNA:increased expression:peripheral blood mononuclear cell:
ClinVar CTD OMIM RGD
PMID:7529964 PMID:8589724 PMID:10554798 PMID:11380399 PMID:15790786 PMID:16081693 PMID:16307017 PMID:17065430 PMID:17525721 PMID:20140688 PMID:20205869 PMID:20339585 PMID:20890793 PMID:22703879 PMID:23020152 PMID:23593539 PMID:24205792 PMID:24728327 PMID:25079768 PMID:25157968 PMID:25176472 PMID:25637381 PMID:25741868 PMID:25975190 PMID:26158763 PMID:27023146 PMID:27214377 PMID:27258816 PMID:28492532 PMID:28724667 PMID:30019023 PMID:31350202 PMID:31775759 PMID:9029028 PMID:9519779 More...
RGD:1600046 , RGD:12910724
NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Amz2
archaelysin family metallopeptidase 2
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr11:109,316,772...109,328,974
Ensembl chr11:109,316,772...109,343,639
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Apc
APC, WNT signaling pathway regulator
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
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Dazap1
DAZ associated protein 1
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr10:80,097,168...80,124,242
Ensembl chr10:80,097,320...80,124,242
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Fcnb
ficolin B
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr 2:27,966,491...27,974,921
Ensembl chr 2:27,966,390...27,974,897
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Klhl6
kelch-like 6
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr16:19,765,242...19,801,766
Ensembl chr16:19,765,246...19,801,787
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Notch2
notch 2
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
PMID:8755249 PMID:21378985 PMID:21378989 PMID:22891273 PMID:22891276 PMID:25741868 PMID:27312922 PMID:28492532 More...
NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
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Rapgef1
Rap guanine nucleotide exchange factor (GEF) 1
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr 2:29,509,732...29,630,376
Ensembl chr 2:29,509,732...29,630,990
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Sec14l1
SEC14-like lipid binding 1
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr11:117,005,994...117,050,094
Ensembl chr11:117,005,994...117,050,094
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Slc35a5
solute carrier family 35, member A5
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr16:44,959,936...44,979,036
Ensembl chr16:44,959,936...44,979,069
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Sp4
trans-acting transcription factor 4
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr12:118,195,421...118,265,211
Ensembl chr12:118,198,668...118,265,175
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Tmed9
transmembrane p24 trafficking protein 9
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr13:55,740,948...55,745,510
Ensembl chr13:55,721,545...55,745,510
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Vmp1
vacuole membrane protein 1
ISO
ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis
ClinVar
NCBI chr11:86,474,684...86,574,662
Ensembl chr11:86,474,691...86,574,662
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Myd88
myeloid differentiation primary response gene 88
IAGP
MouseDO
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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Nefh
neurofilament, heavy polypeptide
ISO
associated with Peripheral Nervous System Diseases
RGD
PMID:12536221
RGD:9693726
NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
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Ces1d
carboxylesterase 1D
ISO
ClinVar Annotator: match by term: DRUG METABOLISM, ALTERED, CES1-RELATED
OMIM ClinVar
PMID:18485328 PMID:23111421 PMID:26817948 PMID:27614009
NCBI chr 8:93,892,700...93,924,432
Ensembl chr 8:93,892,696...93,924,466
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Tet2
tet methylcytosine dioxygenase 2
IMP
RGD
PMID:24218139
RGD:11038772
NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900
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Abcg2
ATP binding cassette subfamily G member 2 (Junior blood group)
treatment
ISO
RGD
PMID:26314844 PMID:16917002
RGD:11081075 , RGD:11081144
NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661
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Ace
angiotensin I converting enzyme
ISO
protein:increased activity:serum
RGD
PMID:22345095
RGD:11038914
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Alb
albumin
disease_progression
ISO
RGD
PMID:17096887
RGD:11035276
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Alkbh5
alkB homolog 5, RNA demethylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr11:60,428,509...60,449,338
Ensembl chr11:60,427,207...60,449,338
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Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Arid4a
AT-rich interaction domain 4A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:71,061,314...71,146,125
Ensembl chr12:71,062,764...71,145,366
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Atm
ataxia telangiectasia mutated
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Aurka
aurora kinase A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:172,198,116...172,212,825
Ensembl chr 2:172,198,110...172,212,455
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Myelomatosis protein:increased expression:serum
ClinVar RGD
PMID:26619011 PMID:32856850
RGD:329955356
NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
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Bap1
Brca1 associated protein 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901
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Bard1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:71,066,694...71,142,300
Ensembl chr 1:71,066,657...71,142,305
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Bcl2
B cell leukemia/lymphoma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Bcl2l1
BCL2-like 1
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12429644 PMID:14656874
RGD:11353847
NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648
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Bcl2l10
Bcl2-like 10
ISO
protein:increased expression:bone marrow :
RGD
PMID:27455953
RGD:14392808
NCBI chr 9:75,255,040...75,258,922
Ensembl chr 9:75,255,040...75,258,931
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Bcorl1
BCL6 co-repressor-like 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:47,430,235...47,496,945
Ensembl chr X:47,430,235...47,496,926
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Bnip3
BCL2/adenovirus E1B interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18172295
NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248
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Braf
Braf transforming gene
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24920063 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25463315 PMID:25741868 PMID:25741916 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27236105 PMID:27276561 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29907801 PMID:29925953 PMID:31336229 PMID:31891627 PMID:34476331 More...
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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Btg1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chr10:96,452,863...96,458,675
Ensembl chr10:96,452,868...96,458,671
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Cbl
Casitas B-lineage lymphoma
ISO
mRNA:decreased expression:mononuclear cell:
RGD
PMID:23948411
RGD:11038794
NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346
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Cbx7
chromobox 7
susceptibility
ISO
DNA:snp:intron:c.113+3502C>T (human) (rs877529) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23955597 PMID:23955597
RGD:11352716
NCBI chr15:79,800,005...79,855,344
Ensembl chr15:79,800,008...79,855,320
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccn1
cellular communication network factor 1
exacerbates
ISO
mRNA, protein:increased expression:bone marrow (human) mRNA,protein:increased expression:bone marrow (human)
RGD
PMID:28035364 PMID:25061178
RGD:329845528 , RGD:329845546
NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736
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Ccnd1
cyclin D1
susceptibility
ISO
ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO CTD Direct Evidence: marker/mechanism DNA:snp:exon:c.870G>A (rs603965) (human)
ClinVar OMIM CTD RGD
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 PMID:15755896 PMID:23502783 More...
RGD:1581171 , RGD:11353784
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Ccnd2
cyclin D2
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156
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Ccnd3
cyclin D3
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chr17:47,815,976...47,910,614
Ensembl chr17:47,815,976...47,910,616
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Cd40
CD40 antigen
treatment
ISO
human cells in a mouse model
RGD
PMID:10866315
RGD:11522720
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
treatment disease_progression
IMP ISO
protein:increased expression:serum (human)
RGD
PMID:15565183 PMID:27243341 PMID:22403003
RGD:11352240 , RGD:11352268 , RGD:11352251
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cd46
CD46 antigen, complement regulatory protein
ISO
protein:increased expression:plasma cell (human)
RGD
PMID:16728275
RGD:11352814
NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557
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Cd86
CD86 antigen
severity
ISO
protein:increased expression:bone marrow, plasma cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16611307 PMID:22705596
RGD:11354971
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Cdk4
cyclin dependent kinase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:22804906 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29774366 More...
NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
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Cdkn2a
cyclin dependent kinase inhibitor 2A
disease_progression
ISO
DNA:hypermethylation:: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16008847 PMID:12681979
RGD:11252185
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Cdkn2c
cyclin dependent kinase inhibitor 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:109,518,073...109,523,953
Ensembl chr 4:109,518,073...109,524,386
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Cfhr1
complement factor H-related 1
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:16930142
RGD:4892645
NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
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Crbn
cereblon
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple myeloma
CTD ClinVar
PMID:26186254
NCBI chr 6:106,755,205...106,777,060
Ensembl chr 6:106,757,162...106,777,038
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
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Csf2
colony stimulating factor 2 (granulocyte-macrophage)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7540856 PMID:8104070 PMID:8555506
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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Csf3
colony stimulating factor 3 (granulocyte)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7534716 PMID:7540856
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Cyld
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility
ISO
DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human)
RGD
PMID:18285692
RGD:11352726
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
no_association treatment
ISO
DNA:polymorphisms: :
RGD
PMID:17666363 PMID:20684753
RGD:11352748 RGD:11352804
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Cyp2c66
cytochrome P450, family 2, subfamily c, polypeptide 66
treatment no_association
ISO
DNA:polymorphisms: :
RGD
PMID:17666363 PMID:20684753
RGD:11352748 , RGD:11352804
NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516
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Cyp2d22
cytochrome P450, family 2, subfamily d, polypeptide 22
no_association
ISO
DNA:polymorphisms: :
RGD
PMID:20684753
RGD:11352804
NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206
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Dnmt3a
DNA methyltransferase 3A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443
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Dsg2
desmoglein 2
disease_progression
ISO
RGD
PMID:34245117
RGD:401851080
NCBI chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578
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Eif1ax
eukaryotic translation initiation factor 1A, X-linked
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:158,155,174...158,172,617
Ensembl chr X:158,155,174...158,172,924
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Eng
endoglin
severity
ISO
protein:increased expression:serum:
RGD
PMID:23576184
RGD:11041181
NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
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Ephx1
epoxide hydrolase 1, microsomal
no_association susceptibility
ISO
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) DNA:SNP:exon:rs2234922 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:19736056 PMID:16949155 PMID:24521996
RGD:11252116 , RGD:11252121 , RGD:11252122
NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469
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Ercc1
excision repair cross-complementing rodent repair deficiency, complementation group 1
treatment
ISO
DNA:SNP: :rs735482 (human)
RGD
PMID:21435719
RGD:10450871
NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449
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Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
disease_progression sexual_dimorphism
ISO
DNA:polymorphism: :p.K751Q (rs13181) (human) DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)
RGD
PMID:22183071 PMID:17131345
RGD:11252199 , RGD:401827277
NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186
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Fasl
Fas ligand
disease_progression
ISO
RGD
PMID:16321857
RGD:11049149
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
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Fcgr3
Fc receptor, IgG, low affinity III
disease_progression susceptibility
ISO
DNA:polymorphism: :rs1801274(human)
RGD
PMID:25850245 PMID:17315188
RGD:11040778 , RGD:11040938
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelomatosis
CTD ClinVar
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:10053006 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18642369 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:21936542 PMID:22045636 PMID:23972473 PMID:24075385 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:25741914 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 More...
NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
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Fgg
fibrinogen gamma chain
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356
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Flt3
FMS-like tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299
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Flt3l
FMS-like tyrosine kinase 3 ligand
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:26521986
RGD:11075232
NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856
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Fto
FTO alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:increased expression:bone marrow
RGD
PMID:34274946
RGD:329901767
NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8599825
RGD:11352777
NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
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Gpx3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Gstm1
glutathione S-transferase, mu 1
severity no_association
ISO
RGD
PMID:17653713 PMID:15136237
RGD:10450826 , RGD:10450846
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Gstp1
glutathione S-transferase, pi 1
disease_progression treatment no_association
ISO
DNA:polymorphism: : DNA:polymorphism:cds:p.I105V(human)
RGD
PMID:23953887 PMID:17512053 PMID:18061666
RGD:10755413 , RGD:11075094 , RGD:10755419
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Gstt1
glutathione S-transferase, theta 1
susceptibility no_association
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:15136237 PMID:12624497
RGD:10450846 , RGD:10450847
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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H19
H19, imprinted maternally expressed transcript
severity
ISO
RNA:decrased expression:blood serum (human)
RGD
PMID:29470951
RGD:156430335
NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,131,917
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H1f4
H1.4 linker histone, cluster member
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr13:23,805,760...23,806,541
Ensembl chr13:23,804,612...23,806,541
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H2-Q1
histocompatibility 2, Q region locus 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17283154
NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075
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H2ac8
H2A clustered histone 8
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr13:23,754,837...23,755,394
Ensembl chr13:23,754,691...23,755,394
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H3c1
H3 clustered histone 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr13:23,945,868...23,946,369
Ensembl chr13:23,945,836...23,946,369
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Hdac4
histone deacetylase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421
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Hfe
homeostatic iron regulator
susceptibility
ISO
DNA:missense mutation, haplotype:cds:p.C282Y (human)
RGD
PMID:10383894
RGD:8694350
NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
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Hk1
hexokinase 1
ISO
RGD
PMID:19996089
RGD:11353882
NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687
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Hras
Harvey rat sarcoma virus oncogene
ISO
ClinVar Annotator: match by term: Myelomatosis ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Hspb1
heat shock protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12855565
NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417
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Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:serum:
RGD
PMID:7834632 PMID:7686390
RGD:11354981 , RGD:11520780
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Idh1
isocitrate dehydrogenase 1 (NADP+), soluble
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
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Idh2
isocitrate dehydrogenase 2 (NADP+), mitochondrial
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140
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Igf2r
insulin-like growth factor 2 receptor
ISO
protein:increased expression:serum,urine:
RGD
PMID:29940770
RGD:14985218
NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551
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Il10
interleukin 10
disease_progression
ISO
DNA:SNP, polymorphisms:promoter:-1082G>A, (human) protein:increased expression:serum
RGD
PMID:11307152 PMID:11022130
RGD:11041888 , RGD:11049458
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il1a
interleukin 1 alpha
ISO IMP
DNA:SNP:promoter:-511C>T (human) DNA:SNP:promoter:-889C>T (human)
RGD
PMID:25469832 PMID:1777241 PMID:17926179
RGD:11049156 , RGD:11059513 , RGD:11051973
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1b
interleukin 1 beta
ISO
DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human)
RGD
PMID:17926179
RGD:11051973
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
no_association
ISO
DNA:snp: :11100C>T (human) DNA:repeats:intron:
RGD
PMID:17926179 PMID:10848780
RGD:11051973 , RGD:11522764
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il4ra
interleukin 4 receptor, alpha
susceptibility
ISO
DNA:SNP: :-228120T>C(rs2107356)(human)
RGD
PMID:17315188
RGD:11040938
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8520508 PMID:12855565 PMID:19330649
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262
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Irf4
interferon regulatory factor 4
treatment disease_progression
ISO
DNA:translocation CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18568025 PMID:10557056 PMID:21707574 PMID:17690696
RGD:11526161 , RGD:11530055 , RGD:11530019
NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959
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Irf8
interferon regulatory factor 8
ISO
DNA:hypermethylation
RGD
PMID:23114132
RGD:329902071
NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433
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Kdm5c
lysine demethylase 5C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:151,015,698...151,062,098
Ensembl chr X:151,016,016...151,057,531
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Kmt2c
lysine (K)-specific methyltransferase 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781
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Kmt2d
lysine (K)-specific methyltransferase 2D
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 PMID:28492532 More...
NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
ClinVar Annotator: match by term: Myelomatosis ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30891959 PMID:16321859 More...
RGD:1581756
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lats1
large tumor suppressor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:7,556,964...7,592,225
Ensembl chr10:7,556,978...7,592,224
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Lig4
ligase IV, DNA, ATP-dependent
ISO
DNA:polymorphisms ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:25741916 PMID:27063650 PMID:27612988 PMID:28492532 PMID:12471202 More...
RGD:1600305
NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
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Mcl1
myeloid cell leukemia sequence 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chr 3:95,564,017...95,583,553
Ensembl chr 3:95,566,099...95,570,487
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Mefv
Mediterranean fever
susceptibility
ISO
DNA:polymorphisms:cds:p.E148Q,M694V(human)
RGD
PMID:25202401
RGD:11531123
NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
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Met
met proto-oncogene
ISO
RGD
PMID:11830493
RGD:2317526
NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 3:123,161,944...123,179,639
Ensembl chr 3:123,161,946...123,179,757
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Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr14:52,532,298...52,548,555
Ensembl chr14:52,532,298...52,542,585
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Mga
MAX gene associated
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:119,702,974...119,800,610
Ensembl chr 2:119,727,709...119,800,062
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Mir155
microRNA 155
disease_progression
ISO
miRNA:decreased expression:serum
RGD
PMID:25497370 PMID:28446295
RGD:21079441 , RGD:24922226
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mir17
microRNA 17
disease_progression
ISO
miRNA:increased expression:plasma cell
RGD
PMID:23718138
RGD:329337383
NCBI chr14:115,281,103...115,281,186
Ensembl chr14:115,281,103...115,281,186
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Mir19a
microRNA 19a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29687521
NCBI chr14:115,281,432...115,281,513
Ensembl chr14:115,281,432...115,281,513
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Mir27a
microRNA 27a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 8:84,935,301...84,935,387
Ensembl chr 8:84,935,301...84,935,387
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Mir320
microRNA 320
ameliorates
ISO
human gene in mouse model
RGD
PMID:27086852
RGD:155882577
NCBI chr14:70,680,950...70,681,031
Ensembl chr14:70,680,950...70,681,031
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Mir92-1
microRNA 92-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29687521
NCBI chr14:115,281,859...115,281,938
Ensembl chr14:115,281,859...115,281,938
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Mst1r
macrophage stimulating 1 receptor (c-met-related tyrosine kinase)
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:107,784,057...107,797,582
Ensembl chr 9:107,784,072...107,797,582
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:missense mutations:cds:677C>T, 1298A>C (human)
RGD
PMID:24839819
RGD:10449397
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:polymorphism: :2756A>G(human)
RGD
PMID:17655928
RGD:11075095
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66G>A(human)
RGD
PMID:17655928
RGD:11075095
NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268
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Muc1
mucin 1, transmembrane
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9949172
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
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Myd88
myeloid differentiation primary response gene 88
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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Ncor2
nuclear receptor co-repressor 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 5:125,094,217...125,256,302
Ensembl chr 5:125,094,217...125,256,283
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
ISO
RGD
PMID:16540234 PMID:12377412
RGD:2298898 , RGD:2298895
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
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Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693
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Nono
non-POU-domain-containing, octamer binding protein
exacerbates
ISO
mRNA:increased expression: (human)
RGD
PMID:32410217
RGD:155900765
NCBI chr X:100,473,295...100,492,193
Ensembl chr X:100,472,924...100,492,197
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Notch2
notch 2
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:14726396
RGD:1580763
NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
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Nox1
NADPH oxidase 1
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chr X:132,987,170...133,038,455
Ensembl chr X:132,987,170...133,122,705
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Nqo1
NAD(P)H dehydrogenase, quinone 1
no_association
ISO
DNA:missense mutation:cds:p.P187S (human) DNA:missense mutation:cds:p.P187S (609C>T) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:18156703 PMID:18061666
RGD:10769348 , RGD:10755419
NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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Nras
neuroblastoma ras oncogene
treatment
ISO
DNA:mutation: : ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 PMID:24335104 More...
RGD:11535049
NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
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Nuak1
NUAK family, SNF1-like kinase, 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26873845
NCBI chr10:84,206,764...84,282,028
Ensembl chr10:84,206,769...84,276,461
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Parp1
poly (ADP-ribose) polymerase family, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21917757
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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Pf4
platelet factor 4
ameliorates
ISO
RGD
PMID:21693026
RGD:329901828
NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:71,220,820...71,229,356
Ensembl chr 8:71,220,820...71,229,357
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Pml
promyelocytic leukemia
severity
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:22906876
RGD:41404686
NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069
G
Polr1g
RNA polymerase I subunit G
sexual_dimorphism
ISO
DNA:SNP:exon 1: p.G-21A (rs967591) (human)
RGD
PMID:17131345
RGD:401827277
NCBI chr 7:19,089,932...19,093,408
Ensembl chr 7:19,089,939...19,093,408
G
Pon1
paraoxonase 1
severity susceptibility treatment
ISO
protein:decreased activity:serum (human) DNA:missense mutation:cds:p.Q192R (human)
RGD
PMID:25520116 PMID:15136237 PMID:22348216
RGD:11552578 , RGD:10450846 , RGD:11040544
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
G
Pramex1
PRAME like, X-linked 1
severity
ISO
associated with bortezomib treatment;mRNA:increased expression:bone marrow (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16179254 PMID:24791872
RGD:11535030
NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454
G
Prmt5
protein arginine N-methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29158558
NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
G
Psors1c2
psoriasis susceptibility 1 candidate 2 (human)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chr17:35,842,462...35,845,544
Ensembl chr17:35,844,098...35,845,544
G
Pthlh
parathyroid hormone-like peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11054717
NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
G
Ranbp2
RAN binding protein 2
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:19171422
RGD:9835349
NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178
G
Rbbp8
retinoblastoma binding protein 8, endonuclease
exacerbates
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:30622325
RGD:401940173
NCBI chr18:11,766,333...11,876,264
Ensembl chr18:11,766,333...11,878,278
G
Rbp1
retinol binding protein 1, cellular
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chr 9:98,305,014...98,328,604
Ensembl chr 9:98,305,014...98,328,628
G
Recql4
RecQ protein-like 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:28492532
NCBI chr15:76,587,753...76,594,820
Ensembl chr15:76,587,753...76,594,748
G
Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983
G
Runx1
runt related transcription factor 1
ISO
mRNA:splice variant
RGD
PMID:12560229
RGD:6482834
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
G
Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969
G
Samhd1
SAM domain and HD domain, 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:156,939,454...156,977,016
Ensembl chr 2:156,939,453...156,977,185
G
Sgk1
serum/glucocorticoid regulated kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:21,758,083...21,875,802
Ensembl chr10:21,758,083...21,875,802
G
Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709
G
Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15908783 PMID:15908783
RGD:1581238
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
G
Sparc
secreted acidic cysteine rich glycoprotein
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:hypermethylation: :
CTD RGD
PMID:18172295 PMID:23699600
RGD:11073605
NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009
G
Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16208410
RGD:1581367
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
G
Tas2r103
taste receptor, type 2, member 103
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:133,013,126...133,014,064
Ensembl chr 6:133,013,126...133,014,064
G
Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481
G
Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
G
Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900
G
Tet3
tet methylcytosine dioxygenase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:83,339,355...83,434,190
Ensembl chr 6:83,339,355...83,436,066
G
Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:21654517
RGD:11062101
NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
G
Tgfb1
transforming growth factor, beta 1
disease_progression
ISO
DNA:hypermethylation: : protein:decreased expression:serum:
RGD
PMID:23699600 PMID:22560388
RGD:11073605 , RGD:11073614
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
G
Tnf
tumor necrosis factor
treatment no_association
ISO
DNA:SNP:promoter:-238G>A (human) DNA:SNP:promoter:-308G>A (human)
RGD
PMID:12200397 PMID:12815949
RGD:10449450 , RGD:10449453
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Tnfrsf10b
tumor necrosis factor receptor superfamily, member 10b
treatment
ISO
RGD
PMID:16531263
RGD:11038719
NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860
G
Tnfrsf13b
tumor necrosis factor receptor superfamily, member 13b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198
G
Tnfrsf17
tumor necrosis factor receptor superfamily, member 17
ISO
RGD
PMID:15692072
RGD:2317306
NCBI chr16:11,131,131...11,137,938
Ensembl chr16:11,131,676...11,137,938
G
Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
G
Trnt1
tRNA nucleotidyl transferase, CCA-adding, 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:106,746,099...106,759,435
Ensembl chr 6:106,746,081...106,759,435
G
Trp53
transformation related protein 53
disease_progression treatment
ISO
DNA:polymorphism:cds:p.R72P(human) ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis DNA:deletion: : protein:increased expression:nucleus:
ClinVar RGD
PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2654466 PMID:3784963 PMID:7651740 PMID:7732013 PMID:7737263 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8276238 PMID:8364550 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8688334 PMID:8718514 PMID:9020384 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9242456 PMID:9290701 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15993273 PMID:16258005 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16793544 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20878954 PMID:21059199 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22484423 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23264849 PMID:23340422 PMID:23538418 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25952993 PMID:26014290 PMID:26022348 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32817165 PMID:32906206 PMID:33372952 PMID:33471991 PMID:33758026 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:36219266 PMID:36988593 PMID:24611901 PMID:12745272 PMID:22261445 More...
RGD:11073716 , RGD:11075073 , RGD:11073728
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
G
Tyms
thymidylate synthase
treatment no_association
ISO
DNA:polymorphism: : DNA:repeats:5'UTR:
RGD
PMID:17512053 PMID:17655928
RGD:11075094 , RGD:11075095
NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615
G
Ulk4
unc-51-like kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22120009
NCBI chr 9:120,793,520...121,115,225
Ensembl chr 9:120,784,417...121,106,263
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Vegfa
vascular endothelial growth factor A
susceptibility
ISO
DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human)
RGD
PMID:24687381
RGD:11079182
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Xdh
xanthine dehydrogenase
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191
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Xpo5
exportin 5
severity
ISO
DNA:snp:3' utr:c.*659A>C (rs11077) (human)
RGD
PMID:22539802
RGD:11041735
NCBI chr17:46,513,737...46,554,524
Ensembl chr17:46,513,708...46,554,524
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Xrcc3
X-ray repair complementing defective repair in Chinese hamster cells 3
disease_progression
ISO
DNA:SNP,haplotype:: p.T241M (rs861535) (Human)
RGD
PMID:17131345
RGD:401827277
NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307
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Xrcc4
X-ray repair complementing defective repair in Chinese hamster cells 4
susceptibility
ISO
DNA:SNPs:multiple (human)
RGD
PMID:17901044
RGD:8698655
NCBI chr13:89,997,033...90,237,727
Ensembl chr13:89,922,146...90,237,727
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Xrcc5
X-ray repair complementing defective repair in Chinese hamster cells 5
susceptibility
ISO
DNA:SNP:3'-UTR (human)
RGD
PMID:17901044
RGD:8698655
NCBI chr 1:72,346,576...72,434,112
Ensembl chr 1:72,346,586...72,434,111
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Yap1
yes-associated protein 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597
G
Ythdf1
YTH N6-methyladenosine RNA binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 2:180,546,170...180,562,729
Ensembl chr 2:180,546,170...180,562,742
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Yy1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr12:108,758,841...108,786,074
Ensembl chr12:108,758,899...108,786,074
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Pdgfrb
platelet derived growth factor receptor, beta polypeptide
ISO
ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 PMID:30573803 More...
NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133
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Tmem147
transmembrane protein 147
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:36044892
NCBI chr 7:30,427,126...30,428,959
Ensembl chr 7:30,427,126...30,428,965
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4930451I11Rik
RIKEN cDNA 4930451I11 gene
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 7:126,429,640...126,430,712
Ensembl chr 7:126,429,640...126,430,811
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Abcb1a
ATP-binding cassette, sub-family B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16950614 PMID:25007187
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Ankrd11
ankyrin repeat domain 11
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016
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Ap3b1
adaptor-related protein complex 3, beta 1 subunit
ISO
RGD
PMID:12125811
RGD:1578409
NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825
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Atp6ap1
ATPase, H+ transporting, lysosomal accessory protein 1
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:28492532
NCBI chr X:73,340,753...73,348,297
Ensembl chr X:73,340,703...73,348,327
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C5ar1
complement component 5a receptor 1
ISO
RGD
PMID:10516626
RGD:5130180
NCBI chr 7:15,980,668...15,993,465
Ensembl chr 7:15,980,668...15,993,465
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Ccnq
cyclin Q
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:28492532
NCBI chr11:78,641,332...78,642,555
Ensembl chr11:78,641,332...78,642,555
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Cfb
complement factor B
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
G
Chd1l
chromodomain helicase DNA binding protein 1-like
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 3:97,468,056...97,517,538
Ensembl chr 3:97,468,058...97,517,519
G
Clpb
ClpB caseinolytic peptidase B
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 PMID:28492532 PMID:28687938 PMID:34782754 More...
NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713
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Csf2
colony stimulating factor 2 (granulocyte-macrophage)
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:7875148 PMID:11264156 PMID:10832225
RGD:10449510
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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Csf3
colony stimulating factor 3 (granulocyte)
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 chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Dpyd
dihydropyrimidine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12562666
NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573
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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 chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Ephx1
epoxide hydrolase 1, microsomal
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469
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Fcgr2b
Fc receptor, IgG, low affinity IIb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10848805
NCBI chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116
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Fcgr3
Fc receptor, IgG, low affinity III
ISO
DNA:SNP:cds:p.R131H (human)
RGD
PMID:11295474
RGD:11040988
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Gfi1
growth factor independent 1 transcription repressor
IMP IAGP
DNA:mutation:exon:
RGD
PMID:11810106 PMID:22684987
RGD:11040449 , RGD:11040456
NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902
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Gstt1
glutathione S-transferase, theta 1
susceptibility
ISO
RGD
PMID:19555437
RGD:10450844
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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Hax1
HCLS1 associated X-1
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:28492532 PMID:32581362
NCBI chr 3:89,902,753...89,906,023
Ensembl chr 3:89,902,753...89,906,087
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Hc
hemolytic complement
ISO
RGD
PMID:10516626 PMID:10188960
RGD:5130180 , RGD:1600665
NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450
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Hoxd13
homeobox D13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr 2:74,498,569...74,501,947
Ensembl chr 2:74,498,654...74,501,943
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1884014
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Itgam
integrin alpha M
ISO
associated with Brain Contusion
RGD
PMID:8835801
RGD:329901911
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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Jagn1
jagunal homolog 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129144 PMID:25129145
NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190
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Kif11
kinesin family member 11
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:37,364,830...37,410,311
Ensembl chr19:37,364,851...37,410,307
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Lims2
LIM and senescent cell antigen like domains 2
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr18:32,055,346...32,091,673
Ensembl chr18:32,055,343...32,091,672
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Mki67
antigen identified by monoclonal antibody Ki 67
ISO
protein:increased expression:blood, T cell
RGD
PMID:22092365
RGD:6483522
NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19391036
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Muc16
mucin 16
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 9:18,406,741...18,586,117
Ensembl chr 9:18,406,751...18,585,826
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Nudt15
nudix hydrolase 15
IAGP
MouseDO
NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682
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Nup98
nucleoporin 98
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr 7:101,768,607...101,859,359
Ensembl chr 7:101,768,605...101,859,383
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Pkp3
plakophilin 3
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 7:140,658,202...140,670,424
Ensembl chr 7:140,658,131...140,670,423
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Polr3c
polymerase (RNA) III (DNA directed) polypeptide C
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 3:96,618,836...96,634,803
Ensembl chr 3:96,618,806...96,634,944
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Ptafr
platelet-activating factor receptor
treatment
ISO
RGD
PMID:3011900
RGD:10043179
NCBI chr 4:132,291,378...132,309,994
Ensembl chr 4:132,291,378...132,309,994
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Rnf128
ring finger protein 128
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868
NCBI chr X:138,464,089...138,573,894
Ensembl chr X:138,464,065...138,573,894
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Rps14
ribosomal protein S14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27725143
NCBI chr18:60,907,668...60,911,618
Ensembl chr18:60,880,170...60,911,618
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Slc34a1
solute carrier family 34 (sodium phosphate), member 1
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405
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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 chr11:106,153,997...106,163,810
Ensembl chr11:106,154,005...106,163,798
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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 chr10:128,106,367...128,128,722
Ensembl chr10:128,106,428...128,128,718
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Stat3
signal transducer and activator of transcription 3
ISO
associated with T-cell large granular lymphocyte leukemia
RGD
PMID:22591296
RGD:6892936
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Tle2
transducin-like enhancer of split 2
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr10:81,410,573...81,435,018
Ensembl chr10:81,410,395...81,426,679
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Tmem63a
transmembrane protein 63a
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 1:180,769,899...180,802,671
Ensembl chr 1:180,769,909...180,802,677
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Tnf
tumor necrosis factor
ISO
RGD
PMID:15986200
RGD:1580321
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf10b
tumor necrosis factor receptor superfamily, member 10b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19652058
NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860
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Tpmt
thiopurine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18662289
NCBI chr13:47,175,463...47,196,833
Ensembl chr13:47,175,958...47,198,213
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Ugt1a1
UDP glucuronosyltransferase 1 family, polypeptide A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17549067
NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719
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Usp3
ubiquitin specific peptidase 3
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 9:66,421,573...66,501,996
Ensembl chr 9:66,421,919...66,500,424
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Vps16
VSP16 CORVET/HOPS core subunit
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr 2:130,265,744...130,286,189
Ensembl chr 2:130,266,259...130,286,189
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Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392
NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191
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Zc3h3
zinc finger CCCH type containing 3
ISO
ClinVar Annotator: match by term: Neutropenia
ClinVar
NCBI chr15:75,626,279...75,713,772
Ensembl chr15:75,626,279...75,713,764
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Csf3
colony stimulating factor 3 (granulocyte)
treatment
ISO
RGD
PMID:2475183
RGD:11039032
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Ptafr
platelet-activating factor receptor
treatment
ISO
associated with Scorpion Stings
RGD
PMID:10770284
RGD:10043145
NCBI chr 4:132,291,378...132,309,994
Ensembl chr 4:132,291,378...132,309,994
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Gfi1
growth factor independent 1 transcription repressor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults
OMIM CTD ClinVar
PMID:11807637 PMID:12778173 PMID:25741868 PMID:28492532
NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:22133767
RGD:11038657
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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Dclre1c
DNA cross-link repair 1C
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532
NCBI chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17176792 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18442948 PMID:18822103 PMID:19011808 PMID:19178939 PMID:19830075 PMID:20109747 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25516070 PMID:25741868 PMID:25849362 PMID:25976673 PMID:26457731 PMID:26596586 PMID:27301863 PMID:28083621 PMID:28109013 PMID:28492532 PMID:28769923 PMID:28783691 PMID:29107076 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31503426 PMID:32000930 PMID:32447396 PMID:32655540 PMID:33193364 PMID:33365035 PMID:33628209 More...
NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846
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Rag2
recombination activating gene 2
ISO IAGP
ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia CTD Direct Evidence: marker/mechanism OMIM:603554
ClinVar CTD MouseDO OMIM RGD
PMID:10777560 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16960852 PMID:17572155 PMID:18025461 PMID:18682256 PMID:19178939 PMID:19333736 PMID:20234091 PMID:23243423 PMID:23994475 PMID:25741868 PMID:26457731 PMID:28492532 PMID:28769923 PMID:29772310 PMID:30307608 PMID:30778343 PMID:9630231 More...
RGD:1599403
NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874
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Fip1l1
factor interacting with PAPOLA and CPSF1
ISO
DNA:gene fusion
RGD
PMID:22806436
RGD:11075089
NCBI chr 5:74,695,774...74,759,451
Ensembl chr 5:74,696,110...74,759,461
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
ISO
DNA:gene fusion
RGD
PMID:22806436
RGD:11075089
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Lbr
lamin B receptor
susceptibility
ISO IAGP
DNA:splice-site mutations, frameshift mutations, nonsense mutations ClinVar Annotator: match by term: Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities | ClinVar Annotator: match by term: Pelger-Huet Anomaly | ClinVar Annotator: match by term: Pelger-Huët anomaly CTD Direct Evidence: marker/mechanism OMIM:169400 DNA:missense mutation, splice-site mutation:exon, intron:p.P119L, IVS11-9A>G (human) DNA:nonsense mutation, frameshift mutations
ClinVar CTD MouseDO OMIM RGD
PMID:12118250 PMID:14617022 PMID:18382993 PMID:21327084 PMID:23824842 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26938784 PMID:27336722 PMID:27830109 PMID:28492532 PMID:30448303 PMID:32827848 PMID:34567078 PMID:36307859 PMID:12118250 PMID:14617022 PMID:12490533 More...
RGD:1600215 , RGD:11062007 , RGD:11061939
NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611
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Lbr
lamin B receptor
ISO
ClinVar Annotator: match by term: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | ClinVar Annotator: match by term: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY
OMIM ClinVar
PMID:18382993 PMID:23824842 PMID:25348816 PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 PMID:30448303 PMID:32827848 PMID:34567078 PMID:36307859 More...
NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611
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Card11
caspase recruitment domain family, member 11
ISO
DNA:missense mutations:cds:p.E127G, p.G116S (human)
RGD
PMID:23129749
RGD:11100033
NCBI chr 5:140,858,109...140,986,398
Ensembl chr 5:140,858,745...140,986,337
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Cyba
cytochrome b-245, alpha polypeptide
ISO
DNA:mutations: :multiple (human)
RGD
PMID:18422995
RGD:4779762
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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G6pdx
glucose-6-phosphate dehydrogenase X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4125296
NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800
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Cd40
CD40 antigen
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:26619011
NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
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Bcl2l1
BCL2-like 1
severity
IMP
RGD
PMID:15725478
RGD:11353872
NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648
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Braf
Braf transforming gene
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24920063 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25463315 PMID:25741868 PMID:25741916 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27236105 PMID:27276561 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29907801 PMID:29925953 PMID:31336229 PMID:31891627 PMID:34476331 More...
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:10053006 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18642369 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:22045636 PMID:23972473 PMID:24075385 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:25741914 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 More...
NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
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Hras
Harvey rat sarcoma virus oncogene
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Idh1
isocitrate dehydrogenase 1 (NADP+), soluble
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
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Idh2
isocitrate dehydrogenase 2 (NADP+), mitochondrial
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140
G
Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30891959 More...
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lig4
ligase IV, DNA, ATP-dependent
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11779494 PMID:15333585 PMID:16088910 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:25741916 PMID:27063650 PMID:27612988 PMID:28492532 More...
NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686
G
Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
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Myd88
myeloid differentiation primary response gene 88
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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Nras
neuroblastoma ras oncogene
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 More...
NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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Trp53
transformation related protein 53
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2654466 PMID:3784963 PMID:7651740 PMID:7732013 PMID:7737263 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8276238 PMID:8364550 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8688334 PMID:9020384 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9242456 PMID:9290701 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15993273 PMID:16258005 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16793544 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20878954 PMID:21059199 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22484423 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23264849 PMID:23340422 PMID:23538418 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25952993 PMID:26014290 PMID:26022348 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32817165 PMID:32906206 PMID:33372952 PMID:33471991 PMID:33758026 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:36219266 PMID:36988593 More...
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Aicda
activation-induced cytidine deaminase
treatment
IMP
RGD
PMID:20404277
RGD:11039454
NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
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Bcl2
B cell leukemia/lymphoma 2
susceptibility
ISO
human gene in a mouse model
RGD
PMID:14695177
RGD:11526108
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Cdkn2a
cyclin dependent kinase inhibitor 2A
IMP
RGD
PMID:11113205
RGD:11251742
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Il10
interleukin 10
IMP
RGD
PMID:26140236
RGD:11049175
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983
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Tnf
tumor necrosis factor
treatment
IMP
RGD
PMID:2022919
RGD:10449448
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Usb1
U6 snRNA biogenesis 1
ISO
ClinVar Annotator: match by term: Poikiloderma with neutropenia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:28353165 PMID:28492532 PMID:29072891 PMID:29770900 PMID:29982244 PMID:32897901 PMID:34179048 More...
NCBI chr 8:96,058,006...96,074,137
Ensembl chr 8:96,058,912...96,074,135
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Epx
eosinophil peroxidase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Eosinophil peroxidase deficiency
OMIM CTD ClinVar
PMID:7809065 PMID:11241847 PMID:25741868 PMID:28492532
NCBI chr11:87,754,824...87,766,362
Ensembl chr11:87,754,826...87,766,362
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Adam8
a disintegrin and metallopeptidase domain 8
ISO
protein:increased expression:serum
RGD
PMID:19625177
RGD:5128874
NCBI chr 7:139,558,845...139,573,016
Ensembl chr 7:139,558,845...139,572,475
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C3
complement component 3
IMP
RGD
PMID:23549917
RGD:7401272
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Ccl1
C-C motif chemokine ligand 1
IMP
associated with Asthma
RGD
PMID:12707363
RGD:4891412
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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Ccl11
C-C motif chemokine ligand 11
IGI
RGD
PMID:12750406
RGD:4145437
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl17
C-C motif chemokine ligand 17
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:11956056
RGD:4145602
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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Ccr3
C-C motif chemokine receptor 3
IMP
RGD
PMID:20732990
RGD:4145617
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Cd44
CD44 antigen
IMP
RGD
PMID:12750406
RGD:4145437
NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010
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Epas1
endothelial PAS domain protein 1
IMP
RGD
PMID:24218148
RGD:11041569
NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838
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Il10
interleukin 10
ISO
protein:increased expression:lung
RGD
PMID:20796249
RGD:4140455
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il13
interleukin 13
IMP
associated with Respiratory Syncytial Virus Infections
RGD
PMID:12574374
RGD:8549597
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:Bronchoalveolar lavage:
RGD
PMID:24706315
RGD:11528542
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il5
interleukin 5
treatment
IMP ISO
associated with Pulmonary Fibrosis;protein:increased expression:respiratory system fluid/secretion associated with respiratory syncytial virus infection
RGD
PMID:9712797 PMID:17597386 PMID:10471622 PMID:12765419 PMID:18519743
RGD:4890961 , RGD:11354949 , RGD:11354935 , RGD:4890956 , RGD:4890941
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Itgb2
integrin beta 2
IEP
protein:increased expression:lung (mouse)
RGD
PMID:7743671
RGD:8547590
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Myd88
myeloid differentiation primary response gene 88
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29067999
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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Nos2
nitric oxide synthase 2, inducible
IMP
RGD
PMID:18829681
RGD:4891506
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3
nitric oxide synthase 3, endothelial cell
IMP
RGD
PMID:16714207
RGD:4892061
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Scgb1a1
secretoglobin, family 1A, member 1
ISO
protein:decreased expression:serum
RGD
PMID:15467329
RGD:5144148
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
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Tbxa2r
thromboxane A2 receptor
treatment
IMP
RGD
PMID:22802632
RGD:11059529
NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006
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Ak2
adenylate kinase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Reticular dysgenesis DNA:missense,nonsense mutations:cds:
OMIM CTD ClinVar RGD
PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:19414857 PMID:23014587 PMID:23763981 PMID:24033266 PMID:25741868 PMID:26229552 PMID:26997321 PMID:28331055 PMID:28492532 PMID:29270983 PMID:29713328 PMID:30697212 PMID:30778343 PMID:31673062 PMID:32532877 PMID:19043416 More...
RGD:11100026
NCBI chr 4:128,887,017...128,905,322
Ensembl chr 4:128,885,751...128,905,322
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:1831824
RGD:7794711
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:16096327 PMID:16096327
RGD:11522758
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Csf3r
colony stimulating factor 3 receptor
IMP
RGD
PMID:9639496
RGD:10450484
NCBI chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233
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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:28652245 PMID:31321910 PMID:32581362 PMID:16985178 PMID:11110716 More...
RGD:10450485 , RGD:10450533
NCBI chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233
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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 chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Fcho1
FCH domain only 1
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
PMID:30822429 PMID:32098969
NCBI chr 8:72,161,031...72,181,980
Ensembl chr 8:72,161,031...72,178,360
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G6pc3
glucose 6 phosphatase, catalytic, 3
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
NCBI chr11:102,080,525...102,084,907
Ensembl chr11:102,080,446...102,084,907
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Gfi1
growth factor independent 1 transcription repressor
IAGP
OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022
MouseDO
NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902
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Hax1
HCLS1 associated X-1
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
PMID:16199547 PMID:17187068 PMID:19036076 PMID:19499579 PMID:22624626 PMID:25741868 PMID:28492532 PMID:31589614 PMID:32054657 PMID:34426522 More...
NCBI chr 3:89,902,753...89,906,023
Ensembl chr 3:89,902,753...89,906,087
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Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Severe congenital neutropenia
ClinVar
PMID:25129144 PMID:25741868 PMID:25851723 PMID:27980538 PMID:28492532 PMID:30443436 PMID:31031743 PMID:32419428 PMID:32888943 PMID:33206996 PMID:33718801 More...
NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190
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Tcirg1
T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3
ISO
ClinVar Annotator: match by term: Congenital neutropenia
ClinVar
PMID:24753205
NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133
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Elane
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: ELANE-related condition | ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 PMID:11675333 PMID:14962902 PMID:15657182 PMID:16079102 PMID:16551967 PMID:16737875 PMID:17053055 PMID:17391497 PMID:17576681 PMID:18028488 PMID:18611981 PMID:19036076 PMID:20049848 PMID:20301705 PMID:20582973 PMID:21425445 PMID:22148006 PMID:22510773 PMID:22758217 PMID:23463630 PMID:24523240 PMID:24616599 PMID:25427142 PMID:25703294 PMID:25741868 PMID:26567890 PMID:28073911 PMID:28492532 PMID:30040071 PMID:30273710 PMID:30386760 PMID:30635825 PMID:31248972 PMID:31321910 PMID:31839986 PMID:32581362 PMID:32888943 PMID:33318085 PMID:33942430 PMID:34093558 PMID:34340247 PMID:34573280 More...
NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Tcirg1
T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
ClinVar
PMID:24753205
NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133
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Vps13b
vacuolar protein sorting 13B
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
ClinVar
PMID:16648375 PMID:25741868 PMID:28492532
NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375
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Galr2
galanin receptor 2
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive
ClinVar
PMID:32273475
NCBI chr11:116,170,520...116,174,776
Ensembl chr11:116,171,765...116,174,764
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Srp68
signal recognition particle 68
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive
OMIM ClinVar
PMID:32273475
NCBI chr11:116,135,992...116,165,043
Ensembl chr11:116,135,992...116,165,043
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Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 11, autosomal dominant
OMIM ClinVar
PMID:32325141
NCBI chr 6:88,480,589...88,495,782
Ensembl chr 6:88,480,561...88,495,887
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Clpb
ClpB caseinolytic peptidase B
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713
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Dipk1a
divergent protein kinase domain 1A
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 5:108,055,908...108,134,943
Ensembl chr 5:108,055,919...108,134,951
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Evi5
ecotropic viral integration site 5
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 5:107,892,661...108,022,973
Ensembl chr 5:107,892,661...108,022,973
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Gfi1
growth factor independent 1 transcription repressor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
OMIM CTD ClinVar
PMID:9536098 PMID:11807637 PMID:12778173 PMID:17576681 PMID:20560965 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902
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Rpl5
ribosomal protein L5
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871
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Snord21
small nucleolar RNA, C/D box 21
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 5:108,052,421...108,052,514
Ensembl chr 5:108,052,421...108,052,514
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4933434E20Rik
RIKEN cDNA 4933434E20 gene
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648 Ensembl chr 3:89,958,943...89,970,648
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Adam15
ADAM metallopeptidase domain 15
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,246,947...89,257,589
Ensembl chr 3:89,245,849...89,257,303
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Adamtsl4
ADAMTS-like 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228
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Adar
adenosine deaminase, RNA-specific
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753
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Anp32e
acidic nuclear phosphoprotein 32 family member E
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,836,557...95,854,699
Ensembl chr 3:95,836,558...95,854,702
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Anxa9
annexin A9
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,203,404...95,222,491
Ensembl chr 3:95,203,407...95,214,487
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Aph1a
aph1 homolog A, gamma secretase subunit
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,801,233...95,805,904
Ensembl chr 3:95,801,281...95,805,600
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Aqp10-ps
aquaporin 10, pseudogene
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:89,870,751...89,877,041
Ensembl chr 3:89,872,016...89,875,998
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Arhgef2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,500,427...88,556,839
Ensembl chr 3:88,513,273...88,555,359
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Arnt
aryl hydrocarbon receptor nuclear translocator
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,341,674...95,404,551
Ensembl chr 3:95,341,699...95,404,551
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Ash1l
ASH1 like histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,857,721...88,986,682
Ensembl chr 3:88,857,929...88,986,682
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Atp8b2
ATPase, class I, type 8B, member 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:89,846,795...89,870,645
Ensembl chr 3:89,846,788...89,870,815
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BC028528
cDNA sequence BC028528
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,789,665...95,800,186
Ensembl chr 3:95,791,266...95,799,317
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Bcan
brevican
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537
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Bglap
bone gamma carboxyglutamate protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
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Bnipl
BCL2/adenovirus E1B 19kD interacting protein like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,148,587...95,158,504
Ensembl chr 3:95,148,582...95,158,504
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C2cd4d
C2 calcium-dependent domain containing 4D
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,269,720...94,271,874
Ensembl chr 3:94,269,745...94,271,873
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Car14
carbonic anhydrase 14
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,805,080...95,812,443
Ensembl chr 3:95,805,080...95,812,003
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Cct3
chaperonin containing TCP1 subunit 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,204,442...88,229,073
Ensembl chr 3:88,204,423...88,229,074
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Cdc42se1
CDC42 small effector 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,135,735...95,143,735
Ensembl chr 3:95,136,043...95,143,720
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Celf3
CUGBP, Elav-like family member 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,385,581...94,405,822
Ensembl chr 3:94,385,602...94,399,505
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Cers2
ceramide synthase 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,222,077...95,230,910
Ensembl chr 3:95,222,102...95,230,910
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Cfap141
cilia and flagella associated protein 141
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:89,970,115...89,975,654
Ensembl chr 3:89,970,103...89,973,182
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Cgn
cingulin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,667,376...94,695,036
Ensembl chr 3:94,667,376...94,693,826
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Chrnb2
cholinergic receptor nicotinic beta 2 subunit
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939
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Chtop
chromatin target of PRMT1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805
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Ciart
circadian associated repressor of transcription
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,785,812...95,790,012
Ensembl chr 3:95,785,815...95,789,563
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Cks1b
CDC28 protein kinase 1b
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,322,779...89,325,598
Ensembl chr 3:89,322,779...89,325,690
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Clk2
CDC-like kinase 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,072,102...89,084,394
Ensembl chr 3:89,072,102...89,084,228
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Crabp2
cellular retinoic acid binding protein II
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,856,000...87,860,679
Ensembl chr 3:87,855,973...87,860,683
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Crct1
cysteine-rich C-terminal 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,921,512...92,922,993
Ensembl chr 3:92,921,512...92,922,994
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Creb3l4
cAMP responsive element binding protein 3-like 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,144,805...90,161,387
Ensembl chr 3:90,144,807...90,150,819
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Crnn
cornulin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,052,096...93,057,125
Ensembl chr 3:93,052,094...93,057,126
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Crtc2
CREB regulated transcription coactivator 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,161,475...90,171,432
Ensembl chr 3:90,161,470...90,171,432
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Ctsk
cathepsin K
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673
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Ctss
cathepsin S
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714
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Dap3
death associated protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,828,110...88,858,504
Ensembl chr 3:88,828,110...88,858,488
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Dcst1
DC-STAMP domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,257,526...89,272,560
Ensembl chr 3:89,257,526...89,272,560
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Dcst2
DC-STAMP domain containing 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,257,724...89,284,950
Ensembl chr 3:89,269,282...89,284,856
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Dennd4b
DENN domain containing 4B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,172,281...90,187,972
Ensembl chr 3:90,172,492...90,187,976
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Dpm3
dolichyl-phosphate mannosyltransferase polypeptide 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,166,567...89,174,386
Ensembl chr 3:89,166,665...89,174,386
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Ecm1
extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,641,459...95,646,880
Ensembl chr 3:95,641,459...95,646,881
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Efna1
ephrin A1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,179,037...89,188,258
Ensembl chr 3:89,179,040...89,188,449
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Efna3
ephrin A3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,221,200...89,231,359
Ensembl chr 3:89,221,206...89,230,272
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Efna4
ephrin A4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,240,700...89,245,335
Ensembl chr 3:89,240,697...89,245,335
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Ensa
endosulfine alpha
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,532,291...95,539,428
Ensembl chr 3:95,532,304...95,539,413
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Entrep3
endosomal transmembrane epsin interactor 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,089,996...89,096,598
Ensembl chr 3:89,090,450...89,096,602
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Fdps
farnesyl diphosphate synthetase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,000,895...89,009,274
Ensembl chr 3:89,000,895...89,009,266
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Flad1
flavin adenine dinucleotide synthetase 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,309,980...89,319,188
Ensembl chr 3:89,308,311...89,319,177
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Flg
filaggrin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,180,853...93,200,996
Ensembl chr 3:93,180,830...93,200,993
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Flg2
filaggrin family member 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,104,585...93,128,701
Ensembl chr 3:93,104,585...93,128,698
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Gabpb2
GA repeat binding protein, beta 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,089,077...95,125,291
Ensembl chr 3:95,089,077...95,125,227
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Gatad2b
GATA zinc finger domain containing 2B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,200,488...90,270,712
Ensembl chr 3:90,200,485...90,270,714
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Gba1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273
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Glmp
glycosylated lysosomal membrane protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,232,330...88,235,938
Ensembl chr 3:88,232,330...88,238,620
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Gm128
predicted gene 128
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,144,230...95,148,946
Ensembl chr 3:95,144,231...95,148,909
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Gm3764
predicted gene 3764
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,113,980...88,137,266
Ensembl chr 3:88,113,837...88,137,268
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Golph3l
golgi phosphoprotein 3-like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,496,280...95,526,553
Ensembl chr 3:95,496,245...95,526,553
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Gon4l
gon-4 like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,742,531...88,817,406
Ensembl chr 3:88,742,535...88,817,410
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Gpatch4
G patch domain containing 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,950,413...87,963,301
Ensembl chr 3:87,950,415...87,963,300
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Hapln2
hyaluronan and proteoglycan link protein 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,927,865...87,934,818
Ensembl chr 3:87,929,057...87,934,890
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Hax1
HCLS1 associated X-1
ISO
ClinVar Annotator: match by term: Kostmann syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 PMID:17576681 PMID:18055975 PMID:18330843 PMID:18337561 PMID:18611981 PMID:19036076 PMID:19118303 PMID:19499579 PMID:20065084 PMID:20177699 PMID:20182745 PMID:20220065 PMID:21108402 PMID:21344642 PMID:22102707 PMID:22624626 PMID:24482108 PMID:25326635 PMID:25741868 PMID:28102861 PMID:28454995 PMID:28492532 PMID:31321910 PMID:31589614 PMID:31980526 PMID:32005694 PMID:32054657 PMID:32581362 PMID:33381479 PMID:33560082 PMID:34134972 PMID:34426522 PMID:34826056 More...
NCBI chr 3:89,902,753...89,906,023
Ensembl chr 3:89,902,753...89,906,087
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Hcn3
hyperpolarization-activated, cyclic nucleotide-gated K+ 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,054,082...89,067,538
Ensembl chr 3:89,053,381...89,067,503
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Hdgf
heparin binding growth factor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,813,844...87,823,439
Ensembl chr 3:87,813,628...87,823,439
G
Hormad1
HORMA domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,466,988...95,495,174
Ensembl chr 3:95,466,988...95,494,982
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Hrnr
hornerin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,227,056...93,240,879
Ensembl chr 3:93,227,056...93,240,877
G
Il6ra
interleukin 6 receptor, alpha
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
G
Ilf2
interleukin enhancer binding factor 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,383,421...90,395,686
Ensembl chr 3:90,383,433...90,395,686
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Insrr
insulin receptor-related receptor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,704,215...87,723,408
Ensembl chr 3:87,704,258...87,723,408
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Ints3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,298,691...90,340,800
Ensembl chr 3:90,298,695...90,340,929
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Iqgap3
IQ motif containing GTPase activating protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,989,309...88,028,355
Ensembl chr 3:87,989,278...88,028,355
G
Isg20l2
interferon stimulated exonuclease gene 20-like 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,837,602...87,847,994
Ensembl chr 3:87,837,621...87,847,993
G
Ivl
involucrin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,478,206...92,481,097
Ensembl chr 3:92,478,209...92,481,042
G
Jtb
jumping translocation breakpoint
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,138,904...90,143,147
Ensembl chr 3:90,138,904...90,143,145
G
Kcnn3
potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,427,471...89,579,801
Ensembl chr 3:89,427,471...89,582,439
G
Khdc4
KH domain containing 4, pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,593,087...88,620,240
Ensembl chr 3:88,593,110...88,620,231
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Kplce
KPRP N-terminal and LCE C-terminal like protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,775,666...92,777,512
Ensembl chr 3:92,775,666...92,777,523
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Kprp
keratinocyte expressed, proline-rich
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,730,381...92,734,554
Ensembl chr 3:92,730,381...92,734,554
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Krtcap2
keratinocyte associated protein 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,153,201...89,157,036
Ensembl chr 3:89,153,273...89,157,213
G
Lamtor2
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,457,126...88,460,258
Ensembl chr 3:88,457,126...88,460,381
G
Lce1b
late cornified envelope 1B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,562,957...92,564,233
Ensembl chr 3:92,562,957...92,564,233
G
Lce1c
late cornified envelope 1C
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,586,554...92,588,225
Ensembl chr 3:92,586,554...92,588,225
G
Lce1d
late cornified envelope 1D
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,592,806...92,594,517
Ensembl chr 3:92,592,806...92,594,517
G
Lce1e
late cornified envelope 1E
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,614,707...92,616,381
Ensembl chr 3:92,614,708...92,616,381
G
Lce1f
late cornified envelope 1F
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,626,003...92,627,657
Ensembl chr 3:92,625,992...92,627,657
G
Lce1m
late cornified envelope 1M
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,925,114...92,926,368
Ensembl chr 3:92,925,117...92,926,367
G
Lce3c
late cornified envelope 3C
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,851,793...92,853,038
Ensembl chr 3:92,851,793...92,853,040
G
Lce3d
late cornified envelope 3D
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,864,695...92,865,881
Ensembl chr 3:92,864,697...92,865,812
G
Lce3e
late cornified envelope 3E
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,874,368...92,875,588
Ensembl chr 3:92,874,368...92,875,588
G
Lce6a
late cornified envelope 6A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,512,128...92,528,975
Ensembl chr 3:92,527,388...92,528,967
G
Lelp1
late cornified envelope-like proline-rich 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,042,301...92,050,061
Ensembl chr 3:92,042,304...92,050,051
G
Lenep
lens epithelial protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,309,203...89,309,957
Ensembl chr 3:89,308,295...89,310,100
G
Lingo4
leucine rich repeat and Ig domain containing 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,306,526...94,311,820
Ensembl chr 3:94,305,824...94,311,808
G
Lmna
lamin A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
G
Loricrin
loricrin cornified envelope precursor protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:91,987,578...91,990,447
Ensembl chr 3:91,987,578...91,990,449
G
Lysmd1
LysM, putative peptidoglycan-binding, domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,041,399...95,046,836
Ensembl chr 3:95,041,399...95,046,829
G
Mcl1
myeloid cell leukemia sequence 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,564,017...95,583,553
Ensembl chr 3:95,566,099...95,570,487
G
Mef2d
myocyte enhancer factor 2D
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,049,248...88,079,398
Ensembl chr 3:88,049,679...88,079,393
G
Mettl25b
methyltransferase like 25B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,829,908...87,838,337
Ensembl chr 3:87,829,908...87,838,024
G
Mex3a
mex3 RNA binding family member A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,439,253...88,448,701
Ensembl chr 3:88,439,702...88,448,703
G
Mindy1
MINDY lysine 48 deubiquitinase 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,189,237...95,203,477
Ensembl chr 3:95,188,656...95,203,477
G
Mir9-1
microRNA 9-1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,122,905...88,122,993
Ensembl chr 3:88,122,905...88,122,993
G
Mllt11
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,125,852...95,139,486
Ensembl chr 3:95,126,446...95,139,482
G
Mrpl24
mitochondrial ribosomal protein L24
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,825,438...87,830,757
Ensembl chr 3:87,826,813...87,830,979
G
Mrpl9
mitochondrial ribosomal protein L9
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,350,631...94,355,831
Ensembl chr 3:94,350,625...94,358,437
G
Mrps21
mitochondrial ribosomal protein S21
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,769,946...95,778,826
Ensembl chr 3:95,769,946...95,778,831
G
Msto1
misato 1, mitochondrial distribution and morphology regulator
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,816,923...88,821,257
Ensembl chr 3:88,812,414...88,821,306
G
Mtmr11
myotubularin related protein 11
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:96,069,287...96,079,034
Ensembl chr 3:96,069,321...96,079,034
G
Mtx1
metaxin 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,116,388...89,121,214
Ensembl chr 3:89,116,388...89,134,395
G
Muc1
mucin 1, transmembrane
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
G
Naxe
NAD(P)HX epimerase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,963,827...87,965,851
Ensembl chr 3:87,963,827...87,965,802
G
Nes
nestin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758
G
Npr1
natriuretic peptide receptor 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,357,898...90,373,235
Ensembl chr 3:90,357,898...90,373,173
G
Ntrk1
neurotrophic tyrosine kinase, receptor, type 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
G
Nup210l
nucleoporin 210-like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:90,011,445...90,119,458
Ensembl chr 3:90,011,439...90,119,355
G
Oaz3
ornithine decarboxylase antizyme 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,340,694...94,343,958
Ensembl chr 3:94,339,721...94,351,222
G
Otud7b
OTU domain containing 7B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:96,011,759...96,068,446
Ensembl chr 3:96,011,839...96,068,446
G
Paqr6
progestin and adipoQ receptor family member VI
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,271,376...88,275,848
Ensembl chr 3:88,271,891...88,275,848
G
Pbxip1
pre B cell leukemia transcription factor interacting protein 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,343,982...89,358,259
Ensembl chr 3:89,344,013...89,358,259
G
Pglyrp3
peptidoglycan recognition protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:91,919,784...91,939,979
Ensembl chr 3:91,921,890...91,938,889
G
Pglyrp4
peptidoglycan recognition protein 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,634,008...90,648,824
Ensembl chr 3:90,634,213...90,648,824
G
Pi4kb
phosphatidylinositol 4-kinase beta
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,882,042...94,914,248
Ensembl chr 3:94,882,042...94,914,154
G
Pip5k1a
phosphatidylinositol-4-phosphate 5-kinase, type 1 alpha
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,965,841...95,014,241
Ensembl chr 3:94,965,841...95,014,241
G
Pklr
pyruvate kinase liver and red blood cell
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091
G
Plekho1
pleckstrin homology domain containing, family O member 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,896,110...95,903,258
Ensembl chr 3:95,895,741...95,903,313
G
Pmf1
polyamine-modulated factor 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,301,445...88,317,752
Ensembl chr 3:88,301,450...88,317,638
G
Pmvk
phosphomevalonate kinase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,361,848...89,376,321
Ensembl chr 3:89,361,848...89,376,320
G
Pogz
pogo transposable element with ZNF domain
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,730,289...94,790,888
Ensembl chr 3:94,744,878...94,789,637
G
Prcc
papillary renal cell carcinoma (translocation-associated)
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,766,210...87,792,869
Ensembl chr 3:87,766,210...87,792,915
G
Prpf3
pre-mRNA processing factor 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,737,436...95,763,197
Ensembl chr 3:95,737,436...95,763,197
G
Prr9
proline rich 9
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,029,511...92,031,254
Ensembl chr 3:92,029,511...92,031,254
G
Prune1
prune exopolyphosphatase
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,160,985...95,190,817
Ensembl chr 3:95,160,985...95,189,387
G
Psmb4
proteasome (prosome, macropain) subunit, beta type 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,791,635...94,794,269
Ensembl chr 3:94,791,404...94,794,272
G
Psmd4
proteasome (prosome, macropain) 26S subunit, non-ATPase, 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,939,999...94,949,880
Ensembl chr 3:94,940,005...94,949,925
G
Pygo2
pygopus 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,337,521...89,342,438
Ensembl chr 3:89,337,521...89,342,435
G
Rab13
RAB13, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,121,022...90,133,694
Ensembl chr 3:90,121,002...90,133,692
G
Rab25
RAB25, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,449,335...88,455,586
Ensembl chr 3:88,449,336...88,455,607
G
Rfx5
regulatory factor X, 5 (influences HLA class II expression)
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,861,355...94,868,685
Ensembl chr 3:94,861,386...94,868,872
G
Rhbg
Rhesus blood group-associated B glycoprotein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,150,181...88,162,046
Ensembl chr 3:88,150,181...88,162,016
G
Riiad1
regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,372,291...94,387,661
Ensembl chr 3:94,372,290...94,387,648
G
Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356
G
Rorc
RAR-related orphan receptor gamma
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,280,106...94,305,583
Ensembl chr 3:94,280,101...94,305,583
G
Rprd2
regulation of nuclear pre-mRNA domain containing 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,667,183...95,727,034
Ensembl chr 3:95,667,653...95,726,175
G
Rps27
ribosomal protein S27
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:90,119,974...90,120,955
Ensembl chr 3:90,119,829...90,120,958
G
Rptn
repetin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,301,006...93,306,749
Ensembl chr 3:93,301,006...93,306,749
G
Rusc1
RUN and SH3 domain containing 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,991,282...89,000,670
Ensembl chr 3:88,991,288...89,000,618
G
Rxfp4
relaxin family peptide receptor 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,559,081...88,560,489
Ensembl chr 3:88,559,205...88,560,449
G
S100a1
S100 calcium binding protein A1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,418,341...90,421,637
Ensembl chr 3:90,418,341...90,421,699
G
S100a10
S100 calcium binding protein A10 (calpactin)
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,462,424...93,471,952
Ensembl chr 3:93,462,387...93,471,950
G
S100a11
S100 calcium binding protein A11
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,427,803...93,433,595
Ensembl chr 3:93,427,795...93,433,594
G
S100a13
S100 calcium binding protein A13
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,421,542...90,431,888
Ensembl chr 3:90,421,742...90,431,888
G
S100a14
S100 calcium binding protein A14
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,434,156...90,436,144
Ensembl chr 3:90,434,163...90,436,144
G
S100a16
S100 calcium binding protein A16
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,444,561...90,450,458
Ensembl chr 3:90,444,561...90,450,458
G
S100a2
S100 calcium binding protein A2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,497,554...90,498,815
Ensembl chr 3:90,467,670...90,498,838
G
S100a3
S100 calcium binding protein A3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,467,571...90,510,922
Ensembl chr 3:90,491,966...90,510,009
G
S100a4
S100 calcium binding protein A4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,511,077...90,513,349
Ensembl chr 3:90,511,078...90,513,352
G
S100a5
S100 calcium binding protein A5
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,513,787...90,519,091
Ensembl chr 3:90,515,830...90,519,087
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S100a6
S100 calcium binding protein A6 (calcyclin)
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,520,491...90,531,797
Ensembl chr 3:90,520,189...90,531,488
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S100a7a
S100 calcium binding protein A7A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,561,609...90,565,437
Ensembl chr 3:90,561,324...90,565,976
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S100a8
S100 calcium binding protein A8 (calgranulin A)
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,576,378...90,577,341
Ensembl chr 3:90,576,285...90,577,342
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S100a9
S100 calcium binding protein A9 (calgranulin B)
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,599,937...90,603,028
Ensembl chr 3:90,599,939...90,603,028
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Scamp3
secretory carrier membrane protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,084,698...89,090,077
Ensembl chr 3:89,084,780...89,090,072
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Scnm1
sodium channel modifier 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,037,030...95,041,285
Ensembl chr 3:95,036,847...95,041,322
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Selenbp1
selenium binding protein 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,840,394...94,852,069
Ensembl chr 3:94,840,367...94,852,069
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Sema4a
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489
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Sema6c
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,067,731...95,081,361
Ensembl chr 3:95,067,768...95,081,335
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Setdb1
SET domain, bifurcated 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,230,836...95,264,513
Ensembl chr 3:95,230,836...95,264,513
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Sf3b4
splicing factor 3b, subunit 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:96,079,822...96,084,880
Ensembl chr 3:96,079,648...96,084,880
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Sh2d2a
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,754,070...87,763,116
Ensembl chr 3:87,754,062...87,763,029
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Shc1
src homology 2 domain-containing transforming protein C1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334
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She
src homology 2 domain-containing transforming protein E
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:89,738,667...89,766,149
Ensembl chr 3:89,738,677...89,766,141
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Slc25a44
solute carrier family 25, member 44
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,317,801...88,334,303
Ensembl chr 3:88,317,805...88,332,446
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Slc27a3
solute carrier family 27 (fatty acid transporter), member 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,292,540...90,298,693
Ensembl chr 3:90,292,546...90,297,245
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Slc39a1
solute carrier family 39 (zinc transporter), member 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,155,512...90,160,923
Ensembl chr 3:90,155,479...90,160,919
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Slc50a1
solute carrier family 50 (sugar transporter), member 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,175,553...89,177,878
Ensembl chr 3:89,175,553...89,177,877
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Smcp
sperm mitochondria-associated cysteine-rich protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,491,173...92,496,380
Ensembl chr 3:92,491,174...92,496,304
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Smg5
SMG5 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,242,050...88,269,645
Ensembl chr 3:88,243,567...88,269,645
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Snapin
SNAP-associated protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,395,333...90,398,320
Ensembl chr 3:90,395,333...90,398,340
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Snx27
sorting nexin family member 27
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,404,849...94,490,023
Ensembl chr 3:94,404,851...94,490,023
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Sprr1a
small proline-rich protein 1A
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,391,261...92,393,188
Ensembl chr 3:92,391,259...92,393,202
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Sprr1b
small proline-rich protein 1B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,344,115...92,346,124
Ensembl chr 3:92,344,116...92,346,096
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Sprr2b
small proline-rich protein 2B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,224,012...92,225,448
Ensembl chr 3:92,223,927...92,225,392
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Sprr2d
small proline-rich protein 2D
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,246,447...92,248,187
Ensembl chr 3:92,246,447...92,248,180
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Sprr2e
small proline-rich protein 2E
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,259,450...92,260,757
Ensembl chr 3:92,259,450...92,260,756
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Sprr2f
small proline-rich protein 2F
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,272,494...92,273,754
Ensembl chr 3:92,272,494...92,273,749
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Sprr2g
small proline-rich protein 2G
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,281,222...92,282,536
Ensembl chr 3:92,281,222...92,282,536
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Sprr2h
small proline-rich protein 2H
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,292,992...92,294,631
Ensembl chr 3:92,292,992...92,294,631
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Sprr3
small proline-rich protein 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,363,809...92,366,027
Ensembl chr 3:92,363,809...92,366,027
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Sprr4
small proline-rich protein 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,407,570...92,407,800
Ensembl chr 3:92,407,570...92,407,800
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Ssr2
signal sequence receptor, beta
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,486,915...88,495,727
Ensembl chr 3:88,483,183...88,495,726
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Syt11
synaptotagmin XI
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,652,006...88,682,466
Ensembl chr 3:88,652,007...88,682,471
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Tars2
threonyl-tRNA synthetase 2, mitochondrial (putative)
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,647,286...95,663,677
Ensembl chr 3:95,647,288...95,667,518
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Tchh
trichohyalin
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,348,071...93,356,382
Ensembl chr 3:93,349,637...93,356,384
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Tchhl1
trichohyalin-like 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,376,061...93,379,287
Ensembl chr 3:93,376,061...93,379,287
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Tdrkh
tudor and KH domain containing protein
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,320,551...94,342,161
Ensembl chr 3:94,320,580...94,341,975
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Thbs3
thrombospondin 3
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,122,470...89,134,148
Ensembl chr 3:89,122,487...89,134,144
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Them4
thioesterase superfamily member 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,217,415...94,239,847
Ensembl chr 3:94,217,396...94,239,847
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Them5
thioesterase superfamily member 5
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,249,406...94,254,659
Ensembl chr 3:94,249,406...94,254,659
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Tmem79
transmembrane protein 79
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,236,351...88,241,761
Ensembl chr 3:88,235,962...88,243,455
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Tmod4
tropomodulin 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,030,110...95,036,520
Ensembl chr 3:95,031,787...95,036,520
G
Tnfaip8l2
tumor necrosis factor, alpha-induced protein 8-like 2
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,046,832...95,051,581
Ensembl chr 3:95,046,832...95,049,671
G
Tpm3
tropomyosin 3, gamma
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:89,979,958...90,008,209
Ensembl chr 3:89,979,956...90,008,209
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Trim46
tripartite motif-containing 46
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,141,476...89,153,655
Ensembl chr 3:89,141,484...89,153,616
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Tsacc
TSSK6 activating co-chaperone
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,190,059...88,204,306
Ensembl chr 3:88,190,064...88,204,306
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Ttc24
tetratricopeptide repeat domain 24
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,976,717...87,985,611
Ensembl chr 3:87,977,334...87,982,824 Ensembl chr 3:87,977,334...87,982,824
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Tuft1
tuftelin 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,520,060...94,566,179
Ensembl chr 3:94,520,064...94,566,179
G
Ubap2l
ubiquitin-associated protein 2-like
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:89,906,896...89,959,867
Ensembl chr 3:89,907,447...89,959,935
G
Ube2q1
ubiquitin-conjugating enzyme E2Q family member 1
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:17187068 PMID:28492532
NCBI chr 3:89,680,905...89,691,304
Ensembl chr 3:89,680,923...89,691,307
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Ubqln4
ubiquilin 4
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,460,984...88,477,032
Ensembl chr 3:88,461,065...88,477,032
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Vps45
vacuolar protein sorting 45
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kostmann syndrome
CTD ClinVar
PMID:23599270 PMID:28492532
NCBI chr 3:95,907,144...95,969,715
Ensembl chr 3:95,907,144...95,965,778
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Vps72
vacuolar protein sorting 72
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,018,353...95,030,362
Ensembl chr 3:95,018,333...95,030,362
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Zbtb7b
zinc finger and BTB domain containing 7B
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,284,953...89,300,976
Ensembl chr 3:89,284,951...89,302,083
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Zfp687
zinc finger protein 687
ISO
ClinVar Annotator: match by term: Kostmann syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,901,726...94,923,259
Ensembl chr 3:94,913,901...94,922,759
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G6pc3
glucose 6 phosphatase, catalytic, 3
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar Annotator: match by term: G6PC3-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19011569 PMID:19118303 PMID:19775295 PMID:20220065 PMID:20616219 PMID:20717171 PMID:20799326 PMID:21285905 PMID:21385794 PMID:22050868 PMID:22469094 PMID:23171239 PMID:23180359 PMID:23298686 PMID:23441086 PMID:23454784 PMID:23758768 PMID:24033266 PMID:24105461 PMID:24549407 PMID:24750412 PMID:25284454 PMID:25326635 PMID:25391451 PMID:25491320 PMID:25492228 PMID:25741868 PMID:27571123 PMID:27577878 PMID:28492532 PMID:29163546 PMID:31019026 PMID:31157858 PMID:31321910 PMID:31564432 PMID:32623377 PMID:33259599 PMID:35525891 More...
NCBI chr11:102,080,525...102,084,907
Ensembl chr11:102,080,446...102,084,907
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4933434E20Rik
RIKEN cDNA 4933434E20 gene
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648 Ensembl chr 3:89,958,943...89,970,648
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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 3:89,246,947...89,257,589
Ensembl chr 3:89,245,849...89,257,303
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Adamtsl4
ADAMTS-like 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228
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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 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753
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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 3:95,836,557...95,854,699
Ensembl chr 3:95,836,558...95,854,702
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Anxa9
annexin A9
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,203,404...95,222,491
Ensembl chr 3:95,203,407...95,214,487
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Aph1a
aph1 homolog A, gamma secretase subunit
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,801,233...95,805,904
Ensembl chr 3:95,801,281...95,805,600
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Aqp10-ps
aquaporin 10, pseudogene
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,870,751...89,877,041
Ensembl chr 3:89,872,016...89,875,998
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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 3:88,500,427...88,556,839
Ensembl chr 3:88,513,273...88,555,359
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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 3:95,341,674...95,404,551
Ensembl chr 3:95,341,699...95,404,551
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Ash1l
ASH1 like histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,857,721...88,986,682
Ensembl chr 3:88,857,929...88,986,682
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Atp8b2
ATPase, class I, type 8B, member 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,846,795...89,870,645
Ensembl chr 3:89,846,788...89,870,815
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BC028528
cDNA sequence BC028528
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,789,665...95,800,186
Ensembl chr 3:95,791,266...95,799,317
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Bcan
brevican
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537
G
Bglap
bone gamma carboxyglutamate protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
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Bnipl
BCL2/adenovirus E1B 19kD interacting protein like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,148,587...95,158,504
Ensembl chr 3:95,148,582...95,158,504
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C2cd4d
C2 calcium-dependent domain containing 4D
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,269,720...94,271,874
Ensembl chr 3:94,269,745...94,271,873
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Car14
carbonic anhydrase 14
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,805,080...95,812,443
Ensembl chr 3:95,805,080...95,812,003
G
Cct3
chaperonin containing TCP1 subunit 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,204,442...88,229,073
Ensembl chr 3:88,204,423...88,229,074
G
Cdc42se1
CDC42 small effector 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,135,735...95,143,735
Ensembl chr 3:95,136,043...95,143,720
G
Celf3
CUGBP, Elav-like family member 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,385,581...94,405,822
Ensembl chr 3:94,385,602...94,399,505
G
Cers2
ceramide synthase 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,222,077...95,230,910
Ensembl chr 3:95,222,102...95,230,910
G
Cfap141
cilia and flagella associated protein 141
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,970,115...89,975,654
Ensembl chr 3:89,970,103...89,973,182
G
Cgn
cingulin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,667,376...94,695,036
Ensembl chr 3:94,667,376...94,693,826
G
Chrnb2
cholinergic receptor nicotinic beta 2 subunit
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939
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Chtop
chromatin target of PRMT1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805
G
Ciart
circadian associated repressor of transcription
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,785,812...95,790,012
Ensembl chr 3:95,785,815...95,789,563
G
Cks1b
CDC28 protein kinase 1b
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,322,779...89,325,598
Ensembl chr 3:89,322,779...89,325,690
G
Clk2
CDC-like kinase 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,072,102...89,084,394
Ensembl chr 3:89,072,102...89,084,228
G
Crabp2
cellular retinoic acid binding protein II
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,856,000...87,860,679
Ensembl chr 3:87,855,973...87,860,683
G
Crct1
cysteine-rich C-terminal 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,921,512...92,922,993
Ensembl chr 3:92,921,512...92,922,994
G
Creb3l4
cAMP responsive element binding protein 3-like 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,144,805...90,161,387
Ensembl chr 3:90,144,807...90,150,819
G
Crnn
cornulin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,052,096...93,057,125
Ensembl chr 3:93,052,094...93,057,126
G
Crtc2
CREB regulated transcription coactivator 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,161,475...90,171,432
Ensembl chr 3:90,161,470...90,171,432
G
Ctsk
cathepsin K
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673
G
Ctss
cathepsin S
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714
G
Dap3
death associated protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,828,110...88,858,504
Ensembl chr 3:88,828,110...88,858,488
G
Dcst1
DC-STAMP domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,257,526...89,272,560
Ensembl chr 3:89,257,526...89,272,560
G
Dcst2
DC-STAMP domain containing 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,257,724...89,284,950
Ensembl chr 3:89,269,282...89,284,856
G
Dennd4b
DENN domain containing 4B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,172,281...90,187,972
Ensembl chr 3:90,172,492...90,187,976
G
Dpm3
dolichyl-phosphate mannosyltransferase polypeptide 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,166,567...89,174,386
Ensembl chr 3:89,166,665...89,174,386
G
Ecm1
extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,641,459...95,646,880
Ensembl chr 3:95,641,459...95,646,881
G
Efna1
ephrin A1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,179,037...89,188,258
Ensembl chr 3:89,179,040...89,188,449
G
Efna3
ephrin A3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,221,200...89,231,359
Ensembl chr 3:89,221,206...89,230,272
G
Efna4
ephrin A4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,240,700...89,245,335
Ensembl chr 3:89,240,697...89,245,335
G
Ensa
endosulfine alpha
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,532,291...95,539,428
Ensembl chr 3:95,532,304...95,539,413
G
Entrep3
endosomal transmembrane epsin interactor 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,089,996...89,096,598
Ensembl chr 3:89,090,450...89,096,602
G
Fdps
farnesyl diphosphate synthetase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,000,895...89,009,274
Ensembl chr 3:89,000,895...89,009,266
G
Flad1
flavin adenine dinucleotide synthetase 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,309,980...89,319,188
Ensembl chr 3:89,308,311...89,319,177
G
Flg
filaggrin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,180,853...93,200,996
Ensembl chr 3:93,180,830...93,200,993
G
Flg2
filaggrin family member 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,104,585...93,128,701
Ensembl chr 3:93,104,585...93,128,698
G
Gabpb2
GA repeat binding protein, beta 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,089,077...95,125,291
Ensembl chr 3:95,089,077...95,125,227
G
Gatad2b
GATA zinc finger domain containing 2B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,200,488...90,270,712
Ensembl chr 3:90,200,485...90,270,714
G
Gba1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273
G
Glmp
glycosylated lysosomal membrane protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,232,330...88,235,938
Ensembl chr 3:88,232,330...88,238,620
G
Gm128
predicted gene 128
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,144,230...95,148,946
Ensembl chr 3:95,144,231...95,148,909
G
Gm3764
predicted gene 3764
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,113,980...88,137,266
Ensembl chr 3:88,113,837...88,137,268
G
Golph3l
golgi phosphoprotein 3-like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,496,280...95,526,553
Ensembl chr 3:95,496,245...95,526,553
G
Gon4l
gon-4 like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,742,531...88,817,406
Ensembl chr 3:88,742,535...88,817,410
G
Gpatch4
G patch domain containing 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,950,413...87,963,301
Ensembl chr 3:87,950,415...87,963,300
G
Hapln2
hyaluronan and proteoglycan link protein 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,927,865...87,934,818
Ensembl chr 3:87,929,057...87,934,890
G
Hax1
HCLS1 associated X-1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,902,753...89,906,023
Ensembl chr 3:89,902,753...89,906,087
G
Hcn3
hyperpolarization-activated, cyclic nucleotide-gated K+ 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,054,082...89,067,538
Ensembl chr 3:89,053,381...89,067,503
G
Hdgf
heparin binding growth factor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,813,844...87,823,439
Ensembl chr 3:87,813,628...87,823,439
G
Hormad1
HORMA domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,466,988...95,495,174
Ensembl chr 3:95,466,988...95,494,982
G
Hrnr
hornerin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,227,056...93,240,879
Ensembl chr 3:93,227,056...93,240,877
G
Il6ra
interleukin 6 receptor, alpha
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
G
Ilf2
interleukin enhancer binding factor 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,383,421...90,395,686
Ensembl chr 3:90,383,433...90,395,686
G
Insrr
insulin receptor-related receptor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,704,215...87,723,408
Ensembl chr 3:87,704,258...87,723,408
G
Ints3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,298,691...90,340,800
Ensembl chr 3:90,298,695...90,340,929
G
Iqgap3
IQ motif containing GTPase activating protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,989,309...88,028,355
Ensembl chr 3:87,989,278...88,028,355
G
Isg20l2
interferon stimulated exonuclease gene 20-like 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,837,602...87,847,994
Ensembl chr 3:87,837,621...87,847,993
G
Ivl
involucrin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,478,206...92,481,097
Ensembl chr 3:92,478,209...92,481,042
G
Jtb
jumping translocation breakpoint
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,138,904...90,143,147
Ensembl chr 3:90,138,904...90,143,145
G
Kcnn3
potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,427,471...89,579,801
Ensembl chr 3:89,427,471...89,582,439
G
Khdc4
KH domain containing 4, pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,593,087...88,620,240
Ensembl chr 3:88,593,110...88,620,231
G
Kplce
KPRP N-terminal and LCE C-terminal like protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,775,666...92,777,512
Ensembl chr 3:92,775,666...92,777,523
G
Kprp
keratinocyte expressed, proline-rich
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,730,381...92,734,554
Ensembl chr 3:92,730,381...92,734,554
G
Krtcap2
keratinocyte associated protein 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,153,201...89,157,036
Ensembl chr 3:89,153,273...89,157,213
G
Lamtor2
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,457,126...88,460,258
Ensembl chr 3:88,457,126...88,460,381
G
Lce1b
late cornified envelope 1B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,562,957...92,564,233
Ensembl chr 3:92,562,957...92,564,233
G
Lce1c
late cornified envelope 1C
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,586,554...92,588,225
Ensembl chr 3:92,586,554...92,588,225
G
Lce1d
late cornified envelope 1D
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,592,806...92,594,517
Ensembl chr 3:92,592,806...92,594,517
G
Lce1e
late cornified envelope 1E
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,614,707...92,616,381
Ensembl chr 3:92,614,708...92,616,381
G
Lce1f
late cornified envelope 1F
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,626,003...92,627,657
Ensembl chr 3:92,625,992...92,627,657
G
Lce1m
late cornified envelope 1M
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,925,114...92,926,368
Ensembl chr 3:92,925,117...92,926,367
G
Lce3c
late cornified envelope 3C
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,851,793...92,853,038
Ensembl chr 3:92,851,793...92,853,040
G
Lce3d
late cornified envelope 3D
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,864,695...92,865,881
Ensembl chr 3:92,864,697...92,865,812
G
Lce3e
late cornified envelope 3E
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,874,368...92,875,588
Ensembl chr 3:92,874,368...92,875,588
G
Lce6a
late cornified envelope 6A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,512,128...92,528,975
Ensembl chr 3:92,527,388...92,528,967
G
Lelp1
late cornified envelope-like proline-rich 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,042,301...92,050,061
Ensembl chr 3:92,042,304...92,050,051
G
Lenep
lens epithelial protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,309,203...89,309,957
Ensembl chr 3:89,308,295...89,310,100
G
Lingo4
leucine rich repeat and Ig domain containing 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,306,526...94,311,820
Ensembl chr 3:94,305,824...94,311,808
G
Lmna
lamin A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
G
Loricrin
loricrin cornified envelope precursor protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:91,987,578...91,990,447
Ensembl chr 3:91,987,578...91,990,449
G
Lysmd1
LysM, putative peptidoglycan-binding, domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,041,399...95,046,836
Ensembl chr 3:95,041,399...95,046,829
G
Mcl1
myeloid cell leukemia sequence 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,564,017...95,583,553
Ensembl chr 3:95,566,099...95,570,487
G
Mef2d
myocyte enhancer factor 2D
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,049,248...88,079,398
Ensembl chr 3:88,049,679...88,079,393
G
Mettl25b
methyltransferase like 25B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,829,908...87,838,337
Ensembl chr 3:87,829,908...87,838,024
G
Mex3a
mex3 RNA binding family member A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,439,253...88,448,701
Ensembl chr 3:88,439,702...88,448,703
G
Mindy1
MINDY lysine 48 deubiquitinase 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,189,237...95,203,477
Ensembl chr 3:95,188,656...95,203,477
G
Mir9-1
microRNA 9-1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,122,905...88,122,993
Ensembl chr 3:88,122,905...88,122,993
G
Mllt11
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,125,852...95,139,486
Ensembl chr 3:95,126,446...95,139,482
G
Mrpl24
mitochondrial ribosomal protein L24
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,825,438...87,830,757
Ensembl chr 3:87,826,813...87,830,979
G
Mrpl9
mitochondrial ribosomal protein L9
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,350,631...94,355,831
Ensembl chr 3:94,350,625...94,358,437
G
Mrps21
mitochondrial ribosomal protein S21
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,769,946...95,778,826
Ensembl chr 3:95,769,946...95,778,831
G
Msto1
misato 1, mitochondrial distribution and morphology regulator
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,816,923...88,821,257
Ensembl chr 3:88,812,414...88,821,306
G
Mtmr11
myotubularin related protein 11
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:96,069,287...96,079,034
Ensembl chr 3:96,069,321...96,079,034
G
Mtx1
metaxin 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,116,388...89,121,214
Ensembl chr 3:89,116,388...89,134,395
G
Muc1
mucin 1, transmembrane
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
G
Naxe
NAD(P)HX epimerase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,963,827...87,965,851
Ensembl chr 3:87,963,827...87,965,802
G
Nes
nestin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758
G
Npr1
natriuretic peptide receptor 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,357,898...90,373,235
Ensembl chr 3:90,357,898...90,373,173
G
Ntrk1
neurotrophic tyrosine kinase, receptor, type 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
G
Nup210l
nucleoporin 210-like
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,011,445...90,119,458
Ensembl chr 3:90,011,439...90,119,355
G
Oaz3
ornithine decarboxylase antizyme 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,340,694...94,343,958
Ensembl chr 3:94,339,721...94,351,222
G
Otud7b
OTU domain containing 7B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:96,011,759...96,068,446
Ensembl chr 3:96,011,839...96,068,446
G
Paqr6
progestin and adipoQ receptor family member VI
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,271,376...88,275,848
Ensembl chr 3:88,271,891...88,275,848
G
Pbxip1
pre B cell leukemia transcription factor interacting protein 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,343,982...89,358,259
Ensembl chr 3:89,344,013...89,358,259
G
Pglyrp3
peptidoglycan recognition protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:91,919,784...91,939,979
Ensembl chr 3:91,921,890...91,938,889
G
Pglyrp4
peptidoglycan recognition protein 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,634,008...90,648,824
Ensembl chr 3:90,634,213...90,648,824
G
Pi4kb
phosphatidylinositol 4-kinase beta
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,882,042...94,914,248
Ensembl chr 3:94,882,042...94,914,154
G
Pip5k1a
phosphatidylinositol-4-phosphate 5-kinase, type 1 alpha
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,965,841...95,014,241
Ensembl chr 3:94,965,841...95,014,241
G
Pklr
pyruvate kinase liver and red blood cell
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091
G
Plekho1
pleckstrin homology domain containing, family O member 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,896,110...95,903,258
Ensembl chr 3:95,895,741...95,903,313
G
Pmf1
polyamine-modulated factor 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,301,445...88,317,752
Ensembl chr 3:88,301,450...88,317,638
G
Pmvk
phosphomevalonate kinase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,361,848...89,376,321
Ensembl chr 3:89,361,848...89,376,320
G
Pogz
pogo transposable element with ZNF domain
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,730,289...94,790,888
Ensembl chr 3:94,744,878...94,789,637
G
Prcc
papillary renal cell carcinoma (translocation-associated)
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,766,210...87,792,869
Ensembl chr 3:87,766,210...87,792,915
G
Prpf3
pre-mRNA processing factor 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,737,436...95,763,197
Ensembl chr 3:95,737,436...95,763,197
G
Prr9
proline rich 9
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,029,511...92,031,254
Ensembl chr 3:92,029,511...92,031,254
G
Prune1
prune exopolyphosphatase
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,160,985...95,190,817
Ensembl chr 3:95,160,985...95,189,387
G
Psmb4
proteasome (prosome, macropain) subunit, beta type 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,791,635...94,794,269
Ensembl chr 3:94,791,404...94,794,272
G
Psmd4
proteasome (prosome, macropain) 26S subunit, non-ATPase, 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,939,999...94,949,880
Ensembl chr 3:94,940,005...94,949,925
G
Pygo2
pygopus 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,337,521...89,342,438
Ensembl chr 3:89,337,521...89,342,435
G
Rab13
RAB13, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,121,022...90,133,694
Ensembl chr 3:90,121,002...90,133,692
G
Rab25
RAB25, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,449,335...88,455,586
Ensembl chr 3:88,449,336...88,455,607
G
Rfx5
regulatory factor X, 5 (influences HLA class II expression)
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,861,355...94,868,685
Ensembl chr 3:94,861,386...94,868,872
G
Rhbg
Rhesus blood group-associated B glycoprotein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,150,181...88,162,046
Ensembl chr 3:88,150,181...88,162,016
G
Riiad1
regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,372,291...94,387,661
Ensembl chr 3:94,372,290...94,387,648
G
Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356
G
Rorc
RAR-related orphan receptor gamma
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,280,106...94,305,583
Ensembl chr 3:94,280,101...94,305,583
G
Rprd2
regulation of nuclear pre-mRNA domain containing 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,667,183...95,727,034
Ensembl chr 3:95,667,653...95,726,175
G
Rps27
ribosomal protein S27
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,119,974...90,120,955
Ensembl chr 3:90,119,829...90,120,958
G
Rptn
repetin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,301,006...93,306,749
Ensembl chr 3:93,301,006...93,306,749
G
Rusc1
RUN and SH3 domain containing 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,991,282...89,000,670
Ensembl chr 3:88,991,288...89,000,618
G
Rxfp4
relaxin family peptide receptor 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,559,081...88,560,489
Ensembl chr 3:88,559,205...88,560,449
G
S100a1
S100 calcium binding protein A1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,418,341...90,421,637
Ensembl chr 3:90,418,341...90,421,699
G
S100a10
S100 calcium binding protein A10 (calpactin)
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,462,424...93,471,952
Ensembl chr 3:93,462,387...93,471,950
G
S100a11
S100 calcium binding protein A11
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,427,803...93,433,595
Ensembl chr 3:93,427,795...93,433,594
G
S100a13
S100 calcium binding protein A13
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,421,542...90,431,888
Ensembl chr 3:90,421,742...90,431,888
G
S100a14
S100 calcium binding protein A14
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,434,156...90,436,144
Ensembl chr 3:90,434,163...90,436,144
G
S100a16
S100 calcium binding protein A16
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,444,561...90,450,458
Ensembl chr 3:90,444,561...90,450,458
G
S100a2
S100 calcium binding protein A2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,497,554...90,498,815
Ensembl chr 3:90,467,670...90,498,838
G
S100a3
S100 calcium binding protein A3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,467,571...90,510,922
Ensembl chr 3:90,491,966...90,510,009
G
S100a4
S100 calcium binding protein A4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,511,077...90,513,349
Ensembl chr 3:90,511,078...90,513,352
G
S100a5
S100 calcium binding protein A5
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,513,787...90,519,091
Ensembl chr 3:90,515,830...90,519,087
G
S100a6
S100 calcium binding protein A6 (calcyclin)
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,520,491...90,531,797
Ensembl chr 3:90,520,189...90,531,488
G
S100a7a
S100 calcium binding protein A7A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,561,609...90,565,437
Ensembl chr 3:90,561,324...90,565,976
G
S100a8
S100 calcium binding protein A8 (calgranulin A)
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,576,378...90,577,341
Ensembl chr 3:90,576,285...90,577,342
G
S100a9
S100 calcium binding protein A9 (calgranulin B)
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,599,937...90,603,028
Ensembl chr 3:90,599,939...90,603,028
G
Scamp3
secretory carrier membrane protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,084,698...89,090,077
Ensembl chr 3:89,084,780...89,090,072
G
Scnm1
sodium channel modifier 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,037,030...95,041,285
Ensembl chr 3:95,036,847...95,041,322
G
Selenbp1
selenium binding protein 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,840,394...94,852,069
Ensembl chr 3:94,840,367...94,852,069
G
Sema4a
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489
G
Sema6c
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,067,731...95,081,361
Ensembl chr 3:95,067,768...95,081,335
G
Setdb1
SET domain, bifurcated 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,230,836...95,264,513
Ensembl chr 3:95,230,836...95,264,513
G
Sf3b4
splicing factor 3b, subunit 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:96,079,822...96,084,880
Ensembl chr 3:96,079,648...96,084,880
G
Sh2d2a
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:87,754,070...87,763,116
Ensembl chr 3:87,754,062...87,763,029
G
Shc1
src homology 2 domain-containing transforming protein C1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334
G
She
src homology 2 domain-containing transforming protein E
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,738,667...89,766,149
Ensembl chr 3:89,738,677...89,766,141
G
Slc25a44
solute carrier family 25, member 44
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,317,801...88,334,303
Ensembl chr 3:88,317,805...88,332,446
G
Slc27a3
solute carrier family 27 (fatty acid transporter), member 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,292,540...90,298,693
Ensembl chr 3:90,292,546...90,297,245
G
Slc39a1
solute carrier family 39 (zinc transporter), member 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,155,512...90,160,923
Ensembl chr 3:90,155,479...90,160,919
G
Slc50a1
solute carrier family 50 (sugar transporter), member 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,175,553...89,177,878
Ensembl chr 3:89,175,553...89,177,877
G
Smcp
sperm mitochondria-associated cysteine-rich protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,491,173...92,496,380
Ensembl chr 3:92,491,174...92,496,304
G
Smg5
SMG5 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,242,050...88,269,645
Ensembl chr 3:88,243,567...88,269,645
G
Snapin
SNAP-associated protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:90,395,333...90,398,320
Ensembl chr 3:90,395,333...90,398,340
G
Snx27
sorting nexin family member 27
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,404,849...94,490,023
Ensembl chr 3:94,404,851...94,490,023
G
Sprr1a
small proline-rich protein 1A
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,391,261...92,393,188
Ensembl chr 3:92,391,259...92,393,202
G
Sprr1b
small proline-rich protein 1B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,344,115...92,346,124
Ensembl chr 3:92,344,116...92,346,096
G
Sprr2b
small proline-rich protein 2B
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,224,012...92,225,448
Ensembl chr 3:92,223,927...92,225,392
G
Sprr2d
small proline-rich protein 2D
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,246,447...92,248,187
Ensembl chr 3:92,246,447...92,248,180
G
Sprr2e
small proline-rich protein 2E
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,259,450...92,260,757
Ensembl chr 3:92,259,450...92,260,756
G
Sprr2f
small proline-rich protein 2F
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,272,494...92,273,754
Ensembl chr 3:92,272,494...92,273,749
G
Sprr2g
small proline-rich protein 2G
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,281,222...92,282,536
Ensembl chr 3:92,281,222...92,282,536
G
Sprr2h
small proline-rich protein 2H
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,292,992...92,294,631
Ensembl chr 3:92,292,992...92,294,631
G
Sprr3
small proline-rich protein 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,363,809...92,366,027
Ensembl chr 3:92,363,809...92,366,027
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Sprr4
small proline-rich protein 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,407,570...92,407,800
Ensembl chr 3:92,407,570...92,407,800
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Ssr2
signal sequence receptor, beta
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,486,915...88,495,727
Ensembl chr 3:88,483,183...88,495,726
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Syt11
synaptotagmin XI
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,652,006...88,682,466
Ensembl chr 3:88,652,007...88,682,471
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Tars2
threonyl-tRNA synthetase 2, mitochondrial (putative)
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,647,286...95,663,677
Ensembl chr 3:95,647,288...95,667,518
G
Tchh
trichohyalin
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,348,071...93,356,382
Ensembl chr 3:93,349,637...93,356,384
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Tchhl1
trichohyalin-like 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:93,376,061...93,379,287
Ensembl chr 3:93,376,061...93,379,287
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Tdrkh
tudor and KH domain containing protein
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,320,551...94,342,161
Ensembl chr 3:94,320,580...94,341,975
G
Thbs3
thrombospondin 3
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,122,470...89,134,148
Ensembl chr 3:89,122,487...89,134,144
G
Them4
thioesterase superfamily member 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,217,415...94,239,847
Ensembl chr 3:94,217,396...94,239,847
G
Them5
thioesterase superfamily member 5
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,249,406...94,254,659
Ensembl chr 3:94,249,406...94,254,659
G
Tmem79
transmembrane protein 79
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,236,351...88,241,761
Ensembl chr 3:88,235,962...88,243,455
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Tmod4
tropomodulin 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,030,110...95,036,520
Ensembl chr 3:95,031,787...95,036,520
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Tnfaip8l2
tumor necrosis factor, alpha-induced protein 8-like 2
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,046,832...95,051,581
Ensembl chr 3:95,046,832...95,049,671
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Tpm3
tropomyosin 3, gamma
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,979,958...90,008,209
Ensembl chr 3:89,979,956...90,008,209
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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 3:89,141,476...89,153,655
Ensembl chr 3:89,141,484...89,153,616
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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 3:88,190,059...88,204,306
Ensembl chr 3:88,190,064...88,204,306
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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 3:87,976,717...87,985,611
Ensembl chr 3:87,977,334...87,982,824 Ensembl chr 3:87,977,334...87,982,824
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Tuft1
tuftelin 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,520,060...94,566,179
Ensembl chr 3:94,520,064...94,566,179
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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 3:89,906,896...89,959,867
Ensembl chr 3:89,907,447...89,959,935
G
Ube2q1
ubiquitin-conjugating enzyme E2Q family member 1
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:89,680,905...89,691,304
Ensembl chr 3:89,680,923...89,691,307
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Ubqln4
ubiquilin 4
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:88,460,984...88,477,032
Ensembl chr 3:88,461,065...88,477,032
G
Vps45
vacuolar protein sorting 45
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome | ClinVar Annotator: match by term: Severe congenital neutropenia 5, autosomal recessive
OMIM CTD ClinVar
PMID:9536098 PMID:17576681 PMID:23599270 PMID:23738510 PMID:25640679 PMID:25741868 PMID:26358756 PMID:28492532 PMID:30294941 PMID:32037586 More...
NCBI chr 3:95,907,144...95,969,715
Ensembl chr 3:95,907,144...95,965,778
G
Vps72
vacuolar protein sorting 72
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:95,018,353...95,030,362
Ensembl chr 3:95,018,333...95,030,362
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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 3:89,284,953...89,300,976
Ensembl chr 3:89,284,951...89,302,083
G
Zfp687
zinc finger protein 687
ISO
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
ClinVar
PMID:28492532
NCBI chr 3:94,901,726...94,923,259
Ensembl chr 3:94,913,901...94,922,759
G
Brk1
BRICK1, SCAR/WAVE actin-nucleating complex subunit
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912
G
Cidec
cell death-inducing DFFA-like effector c
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721
G
Creld1
cysteine-rich with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304
G
Emc3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 6:113,491,848...113,508,599
Ensembl chr 6:113,491,835...113,508,613
G
Fancd2
Fanconi anemia, complementation group D2
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978
G
Fancd2os
Fancd2 opposite strand
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676
G
Il17rc
interleukin 17 receptor C
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 6:113,448,416...113,460,124
Ensembl chr 6:113,448,388...113,460,101
G
Il17re
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 6:113,435,659...113,447,719
Ensembl chr 6:113,435,445...113,447,719
G
Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | ClinVar Annotator: match by term: Severe congenital neutropenia 6, autosomal recessive CTD Direct Evidence: marker/mechanism DNA:missense mutations: :multiple DNA:missense mutation:exon:p.H44Y (human)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:25851723 PMID:27980538 PMID:28492532 PMID:30443436 PMID:31031743 PMID:32419428 PMID:32888943 PMID:33206996 PMID:33718801 PMID:25129144 PMID:25851723 More...
RGD:11531099 , RGD:11531098
NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190
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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 6:113,470,599...113,479,071
Ensembl chr 6:113,470,600...113,478,892
G
Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar
PMID:28492532
NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
G
Csf3r
colony stimulating factor 3 receptor
ISO
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | ClinVar Annotator: match by term: Neutropenia, severe congenital, 7, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:28652245 PMID:28762112 PMID:30028820 PMID:30348809 PMID:30891028 PMID:30967555 PMID:31309983 PMID:31321910 PMID:31697825 PMID:32581362 PMID:33108454 More...
NCBI chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233
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Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant | ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME-LIKE
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977
NCBI chr12:55,127,318...55,162,152
Ensembl chr12:55,127,047...55,162,152
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Clpb
ClpB caseinolytic peptidase B
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34115842 PMID:34140661
NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713
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Nbas
neuroblastoma amplified sequence
ISO
ClinVar Annotator: match by term: NBAS-related condition | ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20577004 PMID:24033266 PMID:24884844 PMID:25741868 PMID:26073778 PMID:26541327 PMID:27789416 PMID:28031453 PMID:28115293 PMID:28252636 PMID:28425089 PMID:28492532 PMID:28576691 PMID:28629372 PMID:30825388 PMID:31761904 PMID:32768688 PMID:32805445 PMID:32812336 PMID:33042920 PMID:33707149 PMID:34288298 PMID:34386911 More...
NCBI chr12:13,319,102...13,687,381
Ensembl chr12:13,319,134...13,633,812
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Asxl1
ASXL transcriptional regulator 1
disease_progression
ISO
DNA:mutations: :
RGD
PMID:24465546
RGD:11038711
NCBI chr 2:153,187,750...153,245,927
Ensembl chr 2:153,187,749...153,245,927
G
1700123O20Rik
RIKEN cDNA 1700123O20 gene
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,923,628...54,928,201
Ensembl chr14:54,923,673...54,928,198
G
4931414P19Rik
RIKEN cDNA 4931414P19 gene
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,821,119...54,843,450
Ensembl chr14:54,821,120...54,843,450
G
Acin1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,879,618...54,924,422
Ensembl chr14:54,879,618...54,924,388
G
Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:56,006,513...56,021,552
Ensembl chr14:56,006,514...56,021,552
G
Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,804,926...54,815,118
Ensembl chr14:54,804,929...54,815,015
G
Ap1g2
adaptor protein complex AP-1, gamma 2 subunit
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,336,292...55,344,050
Ensembl chr14:55,336,032...55,344,050
G
Bcl2l2
BCL2-like 2
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,120,900...55,125,691
Ensembl chr14:55,120,834...55,125,691
G
Carmil3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,728,108...55,745,729
Ensembl chr14:55,728,108...55,745,729
G
Cbln3
cerebellin 3 precursor protein
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:56,116,377...56,121,713
Ensembl chr14:56,116,370...56,121,849
G
Cdh24
cadherin-like 24
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,868,688...54,878,853
Ensembl chr14:54,868,688...54,878,821
G
Cebpe
CCAAT/enhancer binding protein epsilon
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Specific granule deficiency
CTD ClinVar
PMID:9536098 PMID:11313242 PMID:11435463 PMID:17576681 PMID:25741868 PMID:28369034 PMID:28492532 PMID:32391290 More...
NCBI chr14:54,947,823...54,949,604
Ensembl chr14:54,947,817...54,949,631
G
Cideb
cell death-inducing DNA fragmentation factor, alpha subunit-like effector B
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,991,509...55,995,881
Ensembl chr14:55,991,507...55,995,915
G
Cma1
chymase 1, mast cell
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132
G
Cmtm5
CKLF-like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,173,927...55,176,734
Ensembl chr14:55,173,718...55,176,731
G
Cpne6
copine VI
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,747,902...55,754,892
Ensembl chr14:55,747,902...55,754,888
G
Ctsg
cathepsin G
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:56,337,342...56,340,031
Ensembl chr14:56,337,338...56,340,031
G
Dcaf11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,796,557...55,807,522
Ensembl chr14:55,797,463...55,807,522
G
Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,976,477...55,983,147
Ensembl chr14:55,976,477...55,983,147
G
Dhrs2
dehydrogenase/reductase member 2
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,459,464...55,478,897
Ensembl chr14:55,459,464...55,478,892
G
Dhrs4
dehydrogenase/reductase 4
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,715,880...55,727,797
Ensembl chr14:55,716,215...55,727,797
G
Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,154,087...55,164,222
Ensembl chr14:55,153,992...55,163,583
G
Emc9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,818,976...55,822,832
Ensembl chr14:55,818,973...55,822,759
G
Fitm1
fat storage-inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,813,131...55,814,409
Ensembl chr14:55,813,074...55,814,411
G
Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,909,692...55,935,602
Ensembl chr14:55,909,398...55,916,657
G
Gzmb
granzyme B
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:56,496,293...56,499,791
Ensembl chr14:56,496,295...56,499,717
G
Gzme
granzyme E
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:56,355,076...56,358,082
Ensembl chr14:56,355,083...56,358,082
G
Haus4
HAUS augmin-like complex, subunit 4
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,779,242...54,792,446
Ensembl chr14:54,779,242...54,792,073
G
Homez
homeodomain leucine zipper-encoding gene
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,090,193...55,109,285
Ensembl chr14:55,090,193...55,108,418
G
Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,170,152...55,173,294
Ensembl chr14:55,170,152...55,173,294
G
Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,862,857...55,873,321
Ensembl chr14:55,862,857...55,873,414
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Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,841,442...55,847,487
Ensembl chr14:55,841,028...55,847,487
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Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,344,283...55,354,392
Ensembl chr14:55,344,283...55,354,392
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Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:56,122,269...56,136,237
Ensembl chr14:56,122,404...56,136,232
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Lrp10
low-density lipoprotein receptor-related protein 10
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,701,260...54,707,749
Ensembl chr14:54,701,594...54,708,954
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Ltb4r1
leukotriene B4 receptor 1
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:56,002,154...56,005,951
Ensembl chr14:56,003,419...56,005,951
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Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,995,379...56,001,523
Ensembl chr14:55,998,885...56,002,595
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Mdp1
magnesium-dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,895,346...55,897,908
Ensembl chr14:55,895,336...55,897,965
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Mir208a
microRNA 208a
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,186,517...55,186,599
Ensembl chr14:55,186,517...55,186,599
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Mir208b
microRNA 208b
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,213,157...55,213,233
Ensembl chr14:55,213,157...55,213,233
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Mmp14
matrix metallopeptidase 14 (membrane-inserted)
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
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Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,664,366...54,667,207
Ensembl chr14:54,664,366...54,667,213
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Myh6
myosin, heavy polypeptide 6, cardiac muscle, alpha
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384
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Myh7
myosin, heavy polypeptide 7, cardiac muscle, beta
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083
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Nedd8
neural precursor cell expressed, developmentally down-regulated gene 8
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,899,720...55,909,337
Ensembl chr14:55,899,720...55,909,581
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Nfatc4
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:56,062,252...56,071,400
Ensembl chr14:56,060,601...56,071,400
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Ngdn
neuroguidin, EIF4E binding protein
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,252,911...55,261,595
Ensembl chr14:55,252,911...55,261,594
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Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,983,150...55,993,091
Ensembl chr14:55,983,150...55,992,957
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Nrl
neural retina leucine zipper gene
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,756,973...55,762,438
Ensembl chr14:55,756,435...55,762,438
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Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:56,091,572...56,112,193
Ensembl chr14:56,091,467...56,112,193
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Pabpn1
poly(A) binding protein, nuclear 1
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,131,600...55,136,384
Ensembl chr14:55,129,957...55,135,626
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Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,777,721...55,787,477
Ensembl chr14:55,777,723...55,788,699
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Ppp1r3e
protein phosphatase 1, regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,113,054...55,114,995
Ensembl chr14:55,110,126...55,115,007
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Prmt5
protein arginine N-methyltransferase 5
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
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Psmb11
proteasome (prosome, macropain) subunit, beta type, 11
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,862,767...54,867,013
Ensembl chr14:54,858,890...54,867,013
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Psmb5
proteasome (prosome, macropain) subunit, beta type 5
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,851,577...54,855,452
Ensembl chr14:54,851,576...54,855,479
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Psme1
proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,815,951...55,818,984
Ensembl chr14:55,815,580...55,818,986
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Psme2
proteasome (prosome, macropain) activator subunit 2 (PA28 beta)
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,824,897...55,828,558
Ensembl chr14:55,824,898...55,828,570
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Rabggta
Rab geranylgeranyl transferase, a subunit
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,953,321...55,959,720
Ensembl chr14:55,952,873...55,959,720
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Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,855,459...55,862,852
Ensembl chr14:55,855,494...55,862,852
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Rem2
rad and gem related GTP binding protein 2
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,713,676...54,717,889
Ensembl chr14:54,713,557...54,717,888
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Ripk3
receptor-interacting serine-threonine kinase 3
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
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Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,020,798...55,091,567
Ensembl chr14:55,051,598...55,091,565
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Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,829,199...55,841,131
Ensembl chr14:55,829,165...55,841,150
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Sdr39u1
short chain dehydrogenase/reductase family 39U, member 1
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:56,134,742...56,137,802
Ensembl chr14:56,134,740...56,137,750
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Slc22a17
solute carrier family 22 (organic cation transporter), member 17
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:55,144,184...55,154,527
Ensembl chr14:55,143,761...55,150,589
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Slc7a7
solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:54,606,899...54,657,525
Ensembl chr14:54,606,899...54,655,237
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Slc7a8
solute carrier family 7 (cationic amino acid transporter, y+ system), member 8
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:11313242 PMID:11435463 PMID:28492532
NCBI chr14:54,959,672...55,019,343
Ensembl chr14:54,959,666...55,019,403
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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:28369034 PMID:28369036
NCBI chr11:106,153,997...106,163,810
Ensembl chr11:106,154,005...106,163,798
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Tgm1
transglutaminase 1, K polypeptide
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,937,466...55,951,378
Ensembl chr14:55,937,466...55,951,383
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Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,332,241...55,336,452
Ensembl chr14:55,332,241...55,336,443
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Tinf2
Terf1 (TRF1)-interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,912,120...55,919,265
Ensembl chr14:55,912,146...55,919,277
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Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,873,422...55,881,263
Ensembl chr14:55,873,422...55,881,263
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Tssk4
testis-specific serine kinase 4
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,880,893...55,889,996
Ensembl chr14:55,887,641...55,889,996
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Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Specific granule deficiency
ClinVar
PMID:28492532
NCBI chr14:55,297,722...55,329,875
Ensembl chr14:55,297,719...55,329,781
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Cebpe
CCAAT/enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Specific granule deficiency 1
OMIM ClinVar
PMID:758416 PMID:4129798 PMID:7088114 PMID:10359588 PMID:11313242 PMID:11435463 PMID:17244686 PMID:25741868 PMID:26019275 PMID:28492532 PMID:29651288 PMID:32391290 PMID:35726044 More...
NCBI chr14:54,947,823...54,949,604
Ensembl chr14:54,947,817...54,949,631
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Smarcd2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
ISO
ClinVar Annotator: match by term: Specific granule deficiency 1
ClinVar
PMID:28369036
NCBI chr11:106,153,997...106,163,810
Ensembl chr11:106,154,005...106,163,798
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Smarcd2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
ISO
ClinVar Annotator: match by term: SMARCD2-related condition | ClinVar Annotator: match by term: Specific granule deficiency 2
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28369036 PMID:28492532 PMID:33025377 PMID:35320004 More...
NCBI chr11:106,153,997...106,163,810
Ensembl chr11:106,154,005...106,163,798
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Cd79b
CD79B antigen
ISO
protein:decreased expression:blood, B cell (human)
RGD
PMID:10329919
RGD:11531139
NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17420286
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Systemic mast cell disease
CTD ClinVar
PMID:16597595 PMID:18559612
NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Foxn1
forkhead box N1
ISO
ClinVar Annotator: match by term: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
OMIM ClinVar
PMID:8911612 PMID:10206641 PMID:15180707 PMID:15897400 PMID:18339010 PMID:20864124 PMID:20978268 PMID:21507891 PMID:25741868 PMID:28492532 PMID:28636882 PMID:31447097 PMID:31566583 PMID:33464451 More...
NCBI chr11:78,248,403...78,277,597
Ensembl chr11:78,248,403...78,277,384
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Cd4
CD4 antigen
ISO
ClinVar Annotator: match by term: Okt4 epitope deficiency
OMIM ClinVar
PMID:1708753 PMID:1961196 PMID:7689618 PMID:25741868 PMID:33116287
NCBI chr 6:124,841,656...124,865,210
Ensembl chr 6:124,841,655...124,865,184
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17030597
NCBI chr11:100,671,557...100,741,407
Ensembl chr11:100,671,557...100,741,550
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Themis
thymocyte selection associated
ISO
DNA:frameshift mutation:
RGD
PMID:22275874
RGD:38599149
NCBI chr10:28,544,356...28,759,816
Ensembl chr10:28,544,356...28,759,814
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Gata1
GATA binding protein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Transient myeloproliferative syndrome
CTD OMIM ClinVar RGD
PMID:24056718 PMID:27993330 PMID:14636651
RGD:10450612
NCBI chr X:7,825,504...7,842,844
Ensembl chr X:7,825,499...7,844,310
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Runx1
runt related transcription factor 1
ISO
ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome
ClinVar
PMID:10068652 PMID:12200707 PMID:15156185 PMID:23817177 PMID:28492532
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: MASTOCYTOSIS, MACULOPAPULAR CUTANEOUS
ClinVar
PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 PMID:11380399 PMID:11493470 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:21689725 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Cxcr4
C-X-C motif chemokine receptor 4
ISO IAGP
ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis OMIM:193670 CTD Direct Evidence: marker/mechanism DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
OMIM ClinVar MouseDO CTD RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 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:32784523 PMID:34573280 PMID:35947323 PMID:36089616 PMID:12692554 More...
RGD:734860
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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Dars1
aspartyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:128,291,444...128,345,153
Ensembl chr 1:128,291,444...128,345,105
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Lct
lactase
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:128,212,493...128,256,055
Ensembl chr 1:128,212,493...128,256,055
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Mcm6
minichromosome maintenance complex component 6
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:128,259,312...128,287,442
Ensembl chr 1:128,259,327...128,287,401
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Mir128-1
microRNA 128-1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:128,130,098...128,130,167
Ensembl chr 1:128,130,098...128,130,167
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R3hdm1
R3H domain containing 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:128,031,016...128,165,475
Ensembl chr 1:128,031,038...128,165,473
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Rab3gap1
RAB3 GTPase activating protein subunit 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:127,796,492...127,871,612
Ensembl chr 1:127,796,510...127,871,605
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Ubxn4
UBX domain protein 4
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:128,171,635...128,207,115
Ensembl chr 1:128,171,701...128,207,115
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Zranb3
zinc finger, RAN-binding domain containing 3
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr 1:127,881,916...128,030,799
Ensembl chr 1:127,881,921...128,030,784
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: CXCR2-related condition | ClinVar Annotator: match by term: WHIM syndrome 2
OMIM ClinVar
PMID:24777453 PMID:25741868 PMID:28492532
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
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Foxp3
forkhead box P3
IAGP
OMIM:301000 | OMIM:614493
MouseDO
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Was
Wiskott-Aldrich syndrome
ISO IAGP
ClinVar Annotator: match by term: Aldrich syndrome | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated OMIM:301000 | OMIM:614493 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:2906042 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7735919 PMID:7753869 PMID:7795648 PMID:8069912 PMID:8528198 PMID:8528199 PMID:8595430 PMID:8673127 PMID:8682510 PMID:8743175 PMID:8931701 PMID:9126958 PMID:9326235 PMID:9536098 PMID:9657775 PMID:10202051 PMID:10447259 PMID:10449748 PMID:10653325 PMID:10691337 PMID:10737997 PMID:11242115 PMID:11298372 PMID:11442475 PMID:11598004 PMID:11745360 PMID:11793485 PMID:12073025 PMID:12199801 PMID:12351383 PMID:12437929 PMID:12727931 PMID:12969986 PMID:14504083 PMID:14566484 PMID:14612666 PMID:15284122 PMID:15497008 PMID:16091449 PMID:16199547 PMID:16511828 PMID:16638962 PMID:16804117 PMID:17065640 PMID:17213309 PMID:17250667 PMID:17390083 PMID:17400488 PMID:17576681 PMID:17703096 PMID:18162713 PMID:19006568 PMID:19308710 PMID:19817875 PMID:19863535 PMID:20173115 PMID:20232122 PMID:20513746 PMID:20546529 PMID:20959042 PMID:21185603 PMID:21710275 PMID:21771083 PMID:22038941 PMID:22426750 PMID:22523910 PMID:22679904 PMID:23023736 PMID:23033889 PMID:23527602 PMID:23689198 PMID:24210885 PMID:24728327 PMID:25091438 PMID:25332606 PMID:25741868 PMID:25792466 PMID:25862925 PMID:25931402 PMID:27566838 PMID:27885891 PMID:27993330 PMID:28492532 PMID:28748566 PMID:30981783 PMID:31352750 PMID:31965297 PMID:32812413 PMID:33225392 PMID:34355501 PMID:35729272 PMID:35874699 PMID:8069912 More...
RGD:1599803
NCBI chr X:7,947,705...7,956,730
Ensembl chr X:7,947,692...7,956,737
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Washc4
WASH complex subunit 4
IAGP
OMIM:301000
MouseDO
NCBI chr10:83,379,073...83,432,350
Ensembl chr10:83,379,616...83,432,337
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Wipf1
WAS/WASL interacting protein family, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:73,259,954...73,359,831
Ensembl chr 2:73,259,954...73,360,078
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Wrn
Werner syndrome RecQ like helicase
ISO
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome
ClinVar
PMID:10069711 PMID:10220139 PMID:16786514 PMID:18414213 PMID:19824023 PMID:24728327 PMID:25018888 PMID:25637295 PMID:25741868 PMID:28492532 More...
NCBI chr 8:33,724,400...33,875,591
Ensembl chr 8:33,724,412...33,875,555
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2
ClinVar
PMID:28492532
NCBI chr 2:73,393,625...73,410,682
Ensembl chr 2:73,393,559...73,410,682
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Wipf1
WAS/WASL interacting protein family, member 1
ISO
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:22231303 PMID:24033266 PMID:25741868 PMID:27742395 PMID:28492532 More...
NCBI chr 2:73,259,954...73,359,831
Ensembl chr 2:73,259,954...73,360,078
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Cyba
cytochrome b-245, alpha polypeptide
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:28492532
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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Cybb
cytochrome b-245, beta polypeptide
treatment
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant DNA:deletion:cds: DNA:missense mutations:exons:1558T>C,937G>A,1271T>C,313C>T(human)
OMIM ClinVar RGD
PMID:1347621 PMID:1438069 PMID:1520880 PMID:1710153 PMID:1719419 PMID:2523713 PMID:2556453 PMID:2838754 PMID:3600768 PMID:7713925 PMID:7907031 PMID:8070813 PMID:8101486 PMID:8182143 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:8961628 PMID:9454688 PMID:9536098 PMID:9585602 PMID:9667376 PMID:9774399 PMID:9794433 PMID:9856476 PMID:10068684 PMID:10089913 PMID:10627478 PMID:10828042 PMID:10914676 PMID:10980575 PMID:11112388 PMID:11162142 PMID:11413138 PMID:11435314 PMID:11462241 PMID:11566256 PMID:11700292 PMID:11997083 PMID:12094329 PMID:12139950 PMID:12589359 PMID:14697745 PMID:15082894 PMID:15338276 PMID:15454837 PMID:16199547 PMID:17576211 PMID:17576681 PMID:18509647 PMID:18546332 PMID:18708296 PMID:18762975 PMID:18773283 PMID:19410294 PMID:19483051 PMID:20228266 PMID:20540864 PMID:20724480 PMID:20729109 PMID:21190454 PMID:21604087 PMID:21659519 PMID:22125116 PMID:22540226 PMID:22562447 PMID:22876374 PMID:22924696 PMID:22924737 PMID:22929960 PMID:23193493 PMID:23859418 PMID:23910690 PMID:23956436 PMID:24276928 PMID:24943880 PMID:24999735 PMID:25252997 PMID:25525159 PMID:25666294 PMID:25741868 PMID:25741905 PMID:26185101 PMID:26453586 PMID:26936803 PMID:27701760 PMID:27853979 PMID:27966181 PMID:27980538 PMID:28168067 PMID:28251166 PMID:28492532 PMID:29018441 PMID:29560547 PMID:29702544 PMID:30237823 PMID:30470980 PMID:30506560 PMID:30633606 PMID:30716179 PMID:31456102 PMID:31813112 PMID:32040803 PMID:33629196 PMID:33717137 PMID:33963972 PMID:34462840 PMID:34680870 PMID:35140711 PMID:35729272 PMID:35874699 PMID:12804147 PMID:7694872 PMID:10068684 More...
RGD:11040567 , RGD:11040562 , RGD:11040560
NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010
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Dynlt3
dynein light chain Tctex-type 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:9,520,509...9,529,222
Ensembl chr X:9,520,506...9,529,242
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H2ap
H2A.P histone
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:9,713,186...9,713,739
Ensembl chr X:9,713,167...9,713,747
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Ncf1
neutrophil cytosolic factor 1
ISO
ClinVar Annotator: match by term: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
ClinVar
PMID:25741868
NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479
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Otc
ornithine transcarbamylase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:10,118,584...10,187,275
Ensembl chr X:10,118,544...10,187,263
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Rpgr
retinitis pigmentosa GTPase regulator
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:10,024,455...10,083,034
Ensembl chr X:9,939,860...10,083,159
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Srpx
sushi-repeat-containing protein
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:9,904,216...9,983,879
Ensembl chr X:9,904,216...9,983,948
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Sytl5
synaptotagmin-like 5
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:9,613,851...9,871,268
Ensembl chr X:9,751,861...9,860,782
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Xk
X-linked Kx blood group
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:8634410 PMID:9585602 PMID:20729109 PMID:22929960 PMID:27701760 PMID:28492532 More...
NCBI chr X:9,139,023...9,179,484
Ensembl chr X:9,138,995...9,179,489
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:871527 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 PMID:17209061 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 PMID:24453067 PMID:24766296 PMID:24952648 PMID:25741868 PMID:28492532 PMID:29146883 More...
NCBI chr X:7,825,504...7,842,844
Ensembl chr X:7,825,499...7,844,310
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Atp7a
ATPase, Cu++ transporting, alpha polypeptide
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:24550228 PMID:28492532
NCBI chr X:105,070,830...105,171,766
Ensembl chr X:105,070,882...105,168,532
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:28492532
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
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Cox7b
cytochrome c oxidase subunit 7B
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:24550228 PMID:28492532
NCBI chr X:105,059,306...105,066,056
Ensembl chr X:105,059,306...105,066,056
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Magt1
magnesium transporter 1
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 PMID:25135935 PMID:25504528 PMID:25741868 PMID:25956530 PMID:26422833 PMID:27770395 PMID:28353193 PMID:28492532 PMID:31036665 PMID:31993868 PMID:32499645 PMID:32581362 PMID:33831577 More...
NCBI chr X:105,011,690...105,055,408
Ensembl chr X:105,011,690...105,055,512
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Pgk1
phosphoglycerate kinase 1
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:28492532
NCBI chr X:105,230,706...105,247,305
Ensembl chr X:105,230,706...105,247,305
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Akap4
A kinase anchor protein 4
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:6,933,754...6,944,848
Ensembl chr X:6,933,758...6,944,848
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Araf
Araf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,663,946...20,726,760
Ensembl chr X:20,664,053...20,726,758
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Bmp15
bone morphogenetic protein 15
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:6,226,108...6,232,778
Ensembl chr X:6,226,161...6,232,775
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Btbd35f6
BTB domain containing 35, family member 6
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:33,392,137...33,394,056
Ensembl chr X:33,392,507...33,394,003
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Cacna1f
calcium channel, voltage-dependent, alpha 1F subunit
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,473,342...7,501,435
Ensembl chr X:7,473,322...7,501,435
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Ccdc120
coiled-coil domain containing 120
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,597,953...7,607,563
Ensembl chr X:7,597,953...7,617,144
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Ccdc22
coiled-coil domain containing 22
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,460,048...7,471,659
Ensembl chr X:7,460,048...7,471,756
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Ccnb3
cyclin B3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:6,845,890...6,907,894
Ensembl chr X:6,845,891...6,907,858
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Cdk16
cyclin dependent kinase 16
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,554,210...20,566,119
Ensembl chr X:20,554,193...20,566,119
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Cfp
complement factor properdin
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,791,693...20,797,794
Ensembl chr X:20,791,693...20,797,794
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Clcn5
chloride channel, voltage-sensitive 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,020,049...7,185,597
Ensembl chr X:7,020,049...7,185,597
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Dgkk
diacylglycerol kinase kappa
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:6,691,103...6,814,602
Ensembl chr X:6,690,410...6,814,602
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Ebp
EBP cholestenol delta-isomerase
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:8,051,568...8,059,751
Ensembl chr X:8,051,568...8,059,751
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Elane
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:24033266
NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Elk1
ELK1, member of ETS oncogene family
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,799,634...20,816,847
Ensembl chr X:20,799,634...20,816,847
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Eras
ES cell-expressed Ras
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,790,515...7,794,846
Ensembl chr X:7,790,515...7,794,846
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Foxp3
forkhead box P3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Ftsj1
FtsJ RNA 2'-O-methyltransferase 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:8,104,907...8,118,609
Ensembl chr X:8,104,907...8,118,645
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Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,825,504...7,842,844
Ensembl chr X:7,825,499...7,844,310
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Glod5
glyoxalase domain containing 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,870,440...7,884,731
Ensembl chr X:7,870,439...7,884,731
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Gpkow
G patch domain and KOW motifs
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,563,373...7,576,500
Ensembl chr X:7,563,370...7,576,501
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Gripap1
GRIP1 associated protein 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,656,009...7,686,805
Ensembl chr X:7,656,004...7,686,806
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Hdac6
histone deacetylase 6
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,796,355...7,814,284
Ensembl chr X:7,796,359...7,814,128
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Jade3
jade family PHD finger 3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,291,611...20,386,178
Ensembl chr X:20,291,927...20,386,178
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Kcnd1
potassium voltage-gated channel, Shal-related family, member 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,686,907...7,704,517
Ensembl chr X:7,688,528...7,704,519
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Magix
MAGI family member, X-linked
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,539,405...7,547,490
Ensembl chr X:7,539,403...7,547,490
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Mir500
microRNA 500
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,103,922...7,104,013
Ensembl chr X:7,103,922...7,104,013
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Mir532
microRNA 532
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,114,641...7,114,736
Ensembl chr X:7,114,641...7,114,736
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Ndufb11
NADH:ubiquinone oxidoreductase subunit B11
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,481,565...20,483,858
Ensembl chr X:20,481,565...20,483,858
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Nudt10
nudix hydrolase 10
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:6,080,750...6,085,321
Ensembl chr X:6,080,750...6,085,069
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Otud5
OTU domain containing 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,705,852...7,742,861
Ensembl chr X:7,707,603...7,742,865
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Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,786,061...7,790,649
Ensembl chr X:7,786,061...7,790,649
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Pim2
proviral integration site 2
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,744,545...7,749,671
Ensembl chr X:7,744,501...7,749,671
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Plp2
proteolipid protein 2
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,534,180...7,537,629
Ensembl chr X:7,534,180...7,537,629
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Porcn
porcupine O-acyltransferase
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:8,060,085...8,072,794
Ensembl chr X:8,060,087...8,072,764
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Ppp1r3f
protein phosphatase 1, regulatory subunit 3F
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,424,815...7,440,541
Ensembl chr X:7,423,535...7,440,522
G
Pqbp1
polyglutamine binding protein 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,760,759...7,765,469
Ensembl chr X:7,760,758...7,765,508
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Praf2
PRA1 domain family 2
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,594,810...7,597,302
Ensembl chr X:7,594,678...7,597,303
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Prickle3
prickle planar cell polarity protein 3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,523,616...7,535,086
Ensembl chr X:7,523,499...7,534,425
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Rbm10
RNA binding motif protein 10
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,483,596...20,517,128
Ensembl chr X:20,483,742...20,517,140
G
Rbm3
RNA binding motif (RNP1, RRM) protein 3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:8,005,214...8,012,119
Ensembl chr X:8,005,214...8,012,119
G
Rgn
regucalcin
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,413,980...20,428,328
Ensembl chr X:20,416,026...20,428,328
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Rp2
retinitis pigmentosa 2 homolog
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,230,778...20,271,873
Ensembl chr X:20,230,720...20,271,892
G
Shroom4
shroom family member 4
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:6,312,012...6,549,508
Ensembl chr X:6,311,908...6,549,502
G
Slc35a2
solute carrier family 35 (UDP-galactose transporter), member A2
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,750,189...7,760,699
Ensembl chr X:7,750,267...7,760,731
G
Slc38a5
solute carrier family 38, member 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:8,137,620...8,146,418
Ensembl chr X:8,137,372...8,146,418
G
Slc9a7
solute carrier family 9 (sodium/hydrogen exchanger), member 7
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:19,965,090...20,158,274
Ensembl chr X:19,971,993...20,158,046
G
Spaca5
sperm acrosome associated 5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,934,669...20,944,197
Ensembl chr X:20,934,645...20,944,202
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Ssxa1
SSX member A1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,984,653...20,988,327
Ensembl chr X:20,982,059...20,987,431
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Ssxb2
SSX member B2
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:8,320,582...8,327,965
Ensembl chr X:8,320,584...8,327,965
G
Ssxb5
SSX member B5
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:8,669,930...8,676,348
Ensembl chr X:8,669,930...8,675,625
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Suv39h1
suppressor of variegation 3-9 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,927,401...7,940,994
Ensembl chr X:7,927,410...7,940,999
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Syn1
synapsin I
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,726,750...20,787,157
Ensembl chr X:20,726,750...20,787,243
G
Syp
synaptophysin
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,504,819...7,519,495
Ensembl chr X:7,504,710...7,519,495
G
Tbc1d25
TBC1 domain family, member 25
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:8,020,709...8,042,420
Ensembl chr X:8,020,711...8,042,420
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Tfe3
transcription factor E3
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,628,769...7,641,441
Ensembl chr X:7,628,799...7,641,441
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Timm17b
translocase of inner mitochondrial membrane 17b
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,765,575...7,773,891
Ensembl chr X:7,765,596...7,776,168
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Timp1
tissue inhibitor of metalloproteinase 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974
G
Uba1
ubiquitin-like modifier activating enzyme 1
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,524,660...20,549,420
Ensembl chr X:20,524,565...20,549,418
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Usp11
ubiquitin specific peptidase 11
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,570,148...20,586,778
Ensembl chr X:20,570,145...20,586,778
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Usp27x
ubiquitin specific peptidase 27, X chromosome
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,238,830...7,242,069
Ensembl chr X:7,237,513...7,242,069
G
Uxt
ubiquitously expressed prefoldin like chaperone
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,818,162...20,828,259
Ensembl chr X:20,807,961...20,828,256
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Was
Wiskott-Aldrich syndrome
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:7795648 PMID:8069912 PMID:8528198 PMID:8528199 PMID:8530058 PMID:8595430 PMID:8666397 PMID:8682510 PMID:8743175 PMID:8757562 PMID:8757563 PMID:8931701 PMID:9126958 PMID:9326235 PMID:9476131 PMID:9536098 PMID:9683546 PMID:10202051 PMID:10447259 PMID:10449748 PMID:10575547 PMID:10653325 PMID:10691337 PMID:10698340 PMID:10737997 PMID:10790228 PMID:10909851 PMID:11167787 PMID:11242115 PMID:11298372 PMID:11442475 PMID:11745360 PMID:11793485 PMID:11877312 PMID:12199801 PMID:12727931 PMID:12969986 PMID:14504083 PMID:14612970 PMID:15284122 PMID:15469902 PMID:15497008 PMID:16091449 PMID:16199547 PMID:16511828 PMID:16638962 PMID:16804117 PMID:17213309 PMID:17250667 PMID:17400488 PMID:17576681 PMID:17703096 PMID:17724125 PMID:18162713 PMID:19006568 PMID:19308710 PMID:19328743 PMID:19817875 PMID:19863535 PMID:20173115 PMID:20232122 PMID:20513746 PMID:20546529 PMID:20959042 PMID:21185603 PMID:21710275 PMID:21771083 PMID:22038941 PMID:22229731 PMID:22426750 PMID:22523910 PMID:22679904 PMID:23023736 PMID:23033889 PMID:23160469 PMID:23527602 PMID:23689198 PMID:23807894 PMID:24210885 PMID:24402308 PMID:24728327 PMID:25091438 PMID:25332606 PMID:25476427 PMID:25741868 PMID:25792466 PMID:25862925 PMID:25931402 PMID:26261240 PMID:26277674 PMID:26368308 PMID:26502776 PMID:27264129 PMID:27566838 PMID:28492532 PMID:28600779 PMID:28623282 PMID:28641574 PMID:28748566 PMID:28901403 PMID:28931895 PMID:28956125 PMID:29078804 PMID:29896746 PMID:29991546 PMID:30549999 PMID:30697212 PMID:30894704 PMID:30981783 PMID:31064749 PMID:31352750 PMID:31354712 PMID:31965297 PMID:32097281 PMID:32812413 PMID:33225392 PMID:34098853 PMID:34355501 PMID:35729272 PMID:35874699 More...
NCBI chr X:7,947,705...7,956,730
Ensembl chr X:7,947,692...7,956,737
G
Wdr13
WD repeat domain 13
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:7,989,540...7,999,134
Ensembl chr X:7,989,540...7,999,131
G
Wdr45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:28492532
NCBI chr X:7,588,212...7,594,439
Ensembl chr X:7,580,572...7,594,445
G
Zfp157
zinc finger protein 157
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr 5:138,439,721...138,459,162
Ensembl chr 5:138,439,730...138,458,956
G
Zfp182
zinc finger protein 182
ISO
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
NCBI chr X:20,892,423...20,928,357
Ensembl chr X:20,895,178...20,928,555
G
Dbr1
debranching RNA lariats 1
ISO
ClinVar Annotator: match by term: Xerosis and growth failure with immune and pulmonary dysfunction syndrome
ClinVar OMIM
PMID:37656279
NCBI chr 9:99,457,839...99,467,060
Ensembl chr 9:99,457,852...99,466,554
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18301
disease of anatomical entity
15631
hematopoietic system disease
3274
leukocyte disease
1285
Abnormal Neutrophil Chemotactic Response
0
B-cell lymphoma +
348
Cd4+ Lymphocyte Deficiency
1
Eosinophilia +
54
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
1
Lazy Leukocyte Syndrome
1
Leukocyte Nuclear Appendages, Hereditary Prevalence of
0
Leukocytosis +
29
Monocyte Esterase Deficiency
1
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly
1
Neutrophil Actin Dysfunction
0
Pelger-Huet anomaly +
2
Phagocytosis, Plasma-Related Defect in
0
Presentey Anomaly
1
Specific Granule Deficiency +
74
T-Cell OKT4 Deficiency
1
Undritz Anomaly
0
acidophil adenoma
0
aggressive NK-cell leukemia
0
basophil adenoma
0
basophilic adenocarcinoma
0
dendritic cell sarcoma +
1
hereditary neutrophilia
1
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
2
immunodeficiency 32B
5
immunodeficiency 7
1
infectious mononucleosis
8
leukocyte adhesion deficiency +
166
leukopenia +
542
leukostasis
5
mastocytosis +
9
phagocyte bactericidal dysfunction +
145
Path 2
disease
18301
disease of anatomical entity
15631
Hemic and Lymphatic Diseases
3776
hematopoietic system disease
3274
leukocyte disease
1285
Abnormal Neutrophil Chemotactic Response
0
B-cell lymphoma +
348
Cd4+ Lymphocyte Deficiency
1
Eosinophilia +
54
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
1
Lazy Leukocyte Syndrome
1
Leukocyte Nuclear Appendages, Hereditary Prevalence of
0
Leukocytosis +
29
Monocyte Esterase Deficiency
1
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly
1
Neutrophil Actin Dysfunction
0
Pelger-Huet anomaly +
2
Phagocytosis, Plasma-Related Defect in
0
Presentey Anomaly
1
Specific Granule Deficiency +
74
T-Cell OKT4 Deficiency
1
Undritz Anomaly
0
acidophil adenoma
0
aggressive NK-cell leukemia
0
basophil adenoma
0
basophilic adenocarcinoma
0
dendritic cell sarcoma +
1
hereditary neutrophilia
1
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
2
immunodeficiency 32B
5
immunodeficiency 7
1
infectious mononucleosis
8
leukocyte adhesion deficiency +
166
leukopenia +
542
leukostasis
5
mastocytosis +
9
phagocyte bactericidal dysfunction +
145