RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | leukocyte disease |
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Accession: | DOID:9500
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browse the term
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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 subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2880869 PMID:9653089 |
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NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Plg |
plasminogen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30213540 |
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NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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Clpb |
ClpB family mitochondrial disaggregase |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 |
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NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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Anapc15 |
anaphase promoting complex subunit 15 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145
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Arap1 |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,748,622...155,814,186
Ensembl chr 1:155,748,652...155,814,184
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Arhgef17 |
Rho guanine nucleotide exchange factor 17 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,230,607...155,290,163
Ensembl chr 1:155,233,168...155,290,498
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Arrb1 |
arrestin, beta 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
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Atg16l2 |
autophagy related 16-like 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,687,386...155,703,419
Ensembl chr 1:155,684,564...155,703,420
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C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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Chrdl2 |
chordin-like 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,343,201...154,370,651
Ensembl chr 1:154,343,201...154,370,640
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Clpb |
ClpB family mitochondrial disaggregase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
OMIM CTD ClinVar |
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:34115842 PMID:34140661 PMID:34782754 PMID:35616898 More...
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NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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Coa4 |
cytochrome c oxidase assembly factor 4 homolog |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,882,199...154,885,445
Ensembl chr 1:154,882,155...154,888,174
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Dhcr7 |
7-dehydrocholesterol reductase |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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Dnajb13 |
DnaJ heat shock protein family (Hsp40) member B13 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963
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Fam168a |
family with sequence similarity 168, member A |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,057,352...155,203,439
Ensembl chr 1:155,057,352...155,201,220
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Fchsd2 |
FCH and double SH3 domains 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,444,471...155,685,350
Ensembl chr 1:155,444,460...155,685,539
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Folr1 |
folate receptor alpha |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667
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Folr2 |
folate receptor beta |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724
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Gdpd5 |
glycerophosphodiester phosphodiesterase domain containing 5 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,679,718...153,761,452
Ensembl chr 1:153,679,718...153,761,446
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Il18bp |
interleukin 18 binding protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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Inppl1 |
inositol polyphosphate phosphatase-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
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Kcne3 |
potassium voltage-gated channel subfamily E regulatory subunit 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020
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Klhl35 |
kelch-like family member 35 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,767,138...153,773,550
Ensembl chr 1:153,767,970...153,773,557
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Krtap5-8 |
keratin associated protein 5-8 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:197,446,125...197,446,817
Ensembl chr 1:197,446,125...197,446,817
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Lamtor1 |
late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179
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Lipt2 |
lipoyl(octanoyl) transferase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890
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Lrtomt |
leucine rich transmembrane and O-methyltransferase domain containing |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704
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Mir139 |
microRNA 139 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
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Mir326 |
microRNA 326 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123
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Mrpl48 |
mitochondrial ribosomal protein L48 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,896,663...154,939,285
Ensembl chr 1:154,896,663...154,939,281
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Nadsyn1 |
NAD synthetase 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869
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Neu3 |
neuraminidase 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813
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Numa1 |
nuclear mitotic apparatus protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
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Olr35 |
olfactory receptor 35 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,994,678...154,043,281
Ensembl chr 1:154,041,306...154,043,257
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P2ry2 |
purinergic receptor P2Y2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632
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P2ry6 |
pyrimidinergic receptor P2Y6 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,295,110...155,330,610
Ensembl chr 1:155,295,111...155,330,808
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P4ha3 |
prolyl 4-hydroxylase subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775
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Pde2a |
phosphodiesterase 2A |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434
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Pgm2l1 |
phosphoglucomutase 2-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902
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Phox2a |
paired-like homeobox 2a |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
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Plekhb1 |
pleckstrin homology domain containing B1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,998,798...155,013,094
Ensembl chr 1:154,998,800...155,016,142
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Pold3 |
DNA polymerase delta 3, accessory subunit |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,417,893...154,456,687
Ensembl chr 1:154,418,084...154,456,665
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Ppme1 |
protein phosphatase methylesterase 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,668,099...154,715,079
Ensembl chr 1:154,668,109...154,715,110
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Rab6a |
RAB6A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,957,870...155,008,922
Ensembl chr 1:154,958,189...154,996,715
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Relt |
RELT, TNF receptor |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
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Rnf121 |
ring finger protein 121 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,377,368...156,439,936
Ensembl chr 1:156,377,364...156,446,826
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Rnf169 |
ring finger protein 169 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,250,462...154,311,867
Ensembl chr 1:154,254,473...154,311,653
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Rps3 |
ribosomal protein S3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,778,363...153,783,663
Ensembl chr 1:153,777,472...153,783,680
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Serpinh1 |
serpin family H member 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
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Slco2b1 |
solute carrier organic anion transporter family, member 2b1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,959,288...154,007,294
Ensembl chr 1:153,959,293...154,007,353
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Snord15a |
small nucleolar RNA, C/D box 15A |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,782,788...153,782,935
Ensembl chr 1:153,782,788...153,782,935
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Spcs2 |
signal peptidase complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,163,724...154,183,152
Ensembl chr 1:154,163,724...154,183,186
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Stard10 |
StAR-related lipid transfer domain containing 10 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,722,637...155,748,007
Ensembl chr 1:155,718,389...155,747,094
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Tpbgl |
trophoblast glycoprotein-like |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,923,722...153,926,548
Ensembl chr 1:153,925,098...153,926,252
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Ucp2 |
uncoupling protein 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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Ucp3 |
uncoupling protein 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
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Xrra1 |
X-ray radiation resistance associated 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,183,330...154,247,883
Ensembl chr 1:154,183,377...154,247,895
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Csf2 |
colony stimulating factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8120554 PMID:11732872 |
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NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15999287 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Il1b |
interleukin 1 beta |
treatment |
ISO |
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RGD |
PMID:1331350 |
RGD:10450883 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Nqo2 |
N-ribosyldihydronicotinamide:quinone dehydrogenase 2 |
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ISO |
associated with schizophrenia;DNA:SNPs:exons, intron:multiple CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14617031 PMID:14617031 |
RGD:11073696 |
NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
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RT1-Bb |
RT1 class II, locus Bb |
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ISO |
DNA:SNP: :6672G>C (human) |
RGD |
PMID:20868635 |
RGD:11041752 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Rag1 |
recombination activating 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity |
OMIM CTD ClinVar |
PMID:2682973 PMID:8810255 PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:12200379 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17572155 PMID:17890453 PMID:18592361 PMID:18822103 PMID:19011808 PMID:19178939 PMID:19246248 PMID:20109747 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25516070 PMID:25741868 PMID:25849362 PMID:25976673 PMID:26457731 PMID:26476733 PMID:26596586 PMID:27301863 PMID:28083621 PMID:28492532 PMID:28769923 PMID:28783691 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:33365035 PMID:33628209 More...
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NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Col9a3 |
collagen type IX alpha 3 chain |
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ISO |
Oculoskeletal dysplasia 1 |
OMIA |
PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 PMID:31415586 PMID:31595625 PMID:31746146 More...
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NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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Jak1 |
Janus kinase 1 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophilia |
OMIM ClinVar |
PMID:20167706 PMID:24728327 PMID:25356970 PMID:25741868 PMID:28111307 PMID:28492532 PMID:32750333 PMID:35046931 More...
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NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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Ncf1 |
neutrophil cytosolic factor 1 |
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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...
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NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Acbd6 |
acyl-CoA binding domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
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Axdnd1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Cacna1e |
calcium voltage-gated channel subunit alpha1 E |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
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Cep350 |
centrosomal protein 350 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:68,023,327...68,164,478
Ensembl chr13:68,026,891...68,165,214
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Dhx9 |
DExH-box helicase 9 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:65,602,322...65,639,098
Ensembl chr13:65,602,323...65,639,069
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Fam163a |
family with sequence similarity 163, member A |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:68,262,867...68,341,323
Ensembl chr13:68,262,872...68,341,049
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Glul |
glutamate-ammonia ligase |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108
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Ier5 |
immediate early response 5 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:67,270,134...67,272,226
Ensembl chr13:67,270,135...67,272,227
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Kiaa1614 |
KIAA1614 homolog |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:67,388,916...67,427,392
Ensembl chr13:67,389,044...67,421,272
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Lamc1 |
laminin subunit gamma 1 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492
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G |
Lamc2 |
laminin subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200
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Lhx4 |
LIM homeobox 4 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:67,877,109...67,917,219
Ensembl chr13:67,877,109...67,927,003
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Mr1 |
major histocompatibility complex, class I-related |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:67,298,362...67,317,985
Ensembl chr13:67,299,585...67,317,970
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G |
Ncf2 |
neutrophil cytosolic factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
OMIM CTD ClinVar |
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:23821607 PMID:24033266 PMID:24931457 PMID:25640679 PMID:25741868 PMID:25937994 PMID:26272171 PMID:28492532 PMID:28750028 PMID:29454792 PMID:30290665 PMID:30470980 PMID:30716179 PMID:32081864 PMID:32281309 PMID:33746979 PMID:34547651 More...
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NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277
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Nmnat2 |
nicotinamide nucleotide adenylyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:65,105,950...65,277,350
Ensembl chr13:65,105,950...65,278,484
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Nphs2 |
NPHS2 stomatin family member, podocin |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Npl |
N-acetylneuraminate pyruvate lyase |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372
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G |
Qsox1 |
quiescin sulfhydryl oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459
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Rgs16 |
regulator of G-protein signaling 16 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:65,887,668...65,892,862
Ensembl chr13:65,887,530...65,892,857
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Rgs8 |
regulator of G-protein signaling 8 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:65,804,703...65,848,955
Ensembl chr13:65,804,797...65,846,807
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Rgsl1 |
regulator of G-protein signaling like 1 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:65,915,052...65,969,846
Ensembl chr13:65,915,097...65,968,954
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Rnasel |
ribonuclease L |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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Shcbp1l |
SHC binding and spindle associated 1 like |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:65,568,863...65,599,155
Ensembl chr13:65,568,863...65,599,154
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G |
Smg7 |
SMG7 nonsense mediated mRNA decay factor |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:64,986,145...65,050,698
Ensembl chr13:64,987,434...65,050,582
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G |
Stx6 |
syntaxin 6 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576
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Tdrd5 |
tudor domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:68,394,180...68,447,745
Ensembl chr13:68,394,061...68,441,319
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Teddm1b |
transmembrane epididymal protein 1B |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:66,000,188...66,002,536
Ensembl chr13:66,000,281...66,001,189
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G |
Tor1aip1 |
torsin 1A interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:68,196,681...68,226,121
Ensembl chr13:68,196,681...68,225,862
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G |
Tor1aip2 |
torsin 1A interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:68,225,226...68,256,536
Ensembl chr13:68,230,009...68,256,536 Ensembl chr13:68,230,009...68,256,536
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Xpr1 |
xenotropic and polytropic retrovirus receptor 1 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
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G |
Zfp648 |
zinc finger protein 648 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:66,337,098...66,344,963
Ensembl chr13:66,342,427...66,344,031
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Cimip4 |
ciliary microtubule inner protein 4 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III |
ClinVar |
PMID:28492532 |
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NCBI chr 7:109,928,165...109,944,994
Ensembl chr 7:109,928,173...109,947,072
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G |
Csf2rb |
colony stimulating factor 2 receptor subunit beta |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III |
ClinVar |
PMID:28492532 |
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NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
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G |
Ncf1 |
neutrophil cytosolic factor 1 |
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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 |
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NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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G |
Ncf4 |
neutrophil cytosolic factor 4 |
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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...
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NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
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G |
Tst |
thiosulfate sulfurtransferase |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III |
ClinVar |
PMID:28492532 |
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NCBI chr 7:109,948,061...109,955,378
Ensembl chr 7:109,948,062...109,957,216
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G |
Acsf3 |
acyl-CoA synthetase family member 3 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 |
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NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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G |
Ankrd11 |
ankyrin repeat domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Aprt |
adenine phosphoribosyl transferase |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 |
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NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
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G |
Banp |
Btg3 associated nuclear protein |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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Car5a |
carbonic anhydrase 5A |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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G |
Cbfa2t3 |
CBFA2/RUNX1 partner transcriptional co-repressor 3 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 |
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NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
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Cdh15 |
cadherin 15 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
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G |
Cdk10 |
cyclin-dependent kinase 10 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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G |
Cdt1 |
chromatin licensing and DNA replication factor 1 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 |
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NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Chmp1a |
charged multivesicular body protein 1A |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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G |
Cpne7 |
copine 7 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
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G |
Ctu2 |
cytosolic thiouridylase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 |
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NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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Cyba |
cytochrome b-245 alpha chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
OMIM CTD ClinVar |
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: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:28341171 PMID:28492532 PMID:28941186 PMID:29454792 PMID:29560547 PMID:30470980 PMID:30709874 PMID:30716179 PMID:31364312 PMID:31375816 PMID:31456102 PMID:32040803 PMID:32081864 PMID:33717137 PMID:34547651 More...
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NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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G |
Dbndd1 |
dysbindin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,539,154...51,548,441
Ensembl chr19:51,539,148...51,548,444
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Def8 |
differentially expressed in FDCP 8 homolog |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,474,783...51,495,638
Ensembl chr19:51,474,878...51,495,638
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G |
Dpep1 |
dipeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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Fanca |
FA complementation group A |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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G |
Galns |
galactosamine (N-acetyl)-6-sulfatase |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 |
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NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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Gas8 |
growth arrest specific 8 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305
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G |
Il17c |
interleukin 17C |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
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G |
Jph3 |
junctophilin 3 |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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G |
Klhdc4 |
kelch domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
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NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
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G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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G |
Mvd |
mevalonate diphosphate 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 |
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NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
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G |
Pabpn1l |
PABPN1 like |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 |
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NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
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G |
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 |
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NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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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 chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
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G |
Rpl13 |
ribosomal protein L13 |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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G |
Slc7a5 |
solute carrier family 7 member 5 |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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G |
Snai3 |
snail family transcriptional repressor 3 |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 |
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NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
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G |
Spata2L |
spermatogenesis associated 2-like |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
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G |
Spata33 |
spermatogenesis associated 33 |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
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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 chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920
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G |
Tcf25 |
transcription factor 25 |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723
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G |
Trappc2l |
trafficking protein particle complex subunit 2L |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 |
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NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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G |
Tubb3 |
tubulin, beta 3 class III |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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G |
Vps9d1 |
VPS9 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634
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G |
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 chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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G |
Zfp26 |
zinc finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
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G |
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 chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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G |
Zfp469 |
zinc finger protein 469 |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,282,337...50,324,010
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G |
Zfpm1 |
zinc finger protein, multitype 1 |
|
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
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G |
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...
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NCBI chr10:106,498,730...106,505,549
Ensembl chr10:106,498,725...106,505,596
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
susceptibility |
ISO |
DNA:SNPs,haplotype: :rs1481012,rs2231142(human) |
RGD |
PMID:21918980 |
RGD:11080977 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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G |
Acoxl |
acyl-CoA oxidase-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr 3:115,061,069...115,367,032
Ensembl chr 3:115,061,060...115,364,686
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G |
Aicda |
activation-induced cytidine deaminase |
disease_progression |
ISO |
|
RGD |
PMID:21133730 |
RGD:11039455 |
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Apoe |
apolipoprotein E |
disease_progression |
ISO |
|
RGD |
PMID:18784741 |
RGD:11040549 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Atm |
ATM serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17968022 |
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Bcl11a |
BCL11 transcription factor A |
|
ISO |
DNA:translocation:5' utr: (human) |
RGD |
PMID:11719382 |
RGD:11100004 |
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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G |
Bcl2 |
BCL2, apoptosis regulator |
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...
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RGD:11522735, RGD:11526110, RGD:11526105, RGD:11526104 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bmf |
Bcl2 modifying factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
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:25155755 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29595366 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Btk |
Bruton 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:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
Cbl |
Cbl proto-oncogene |
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 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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G |
Ccdc50 |
coiled-coil domain containing 50 |
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ISO |
|
RGD |
PMID:19641524 |
RGD:9685139 |
NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150
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G |
Cd40 |
CD40 molecule |
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ISO |
|
RGD |
PMID:20616215 |
RGD:5490532 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
|
ISO |
mouse-human chimeric gene in human |
RGD |
PMID:20882050 |
RGD:11352235 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cd5 |
Cd5 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313
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G |
Cd79b |
CD79b molecule |
|
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 chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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G |
Cd86 |
CD86 molecule |
severity |
ISO |
protein:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:25179679 |
RGD:11354969 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cpeb1 |
cytoplasmic polyadenylation element binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062064 |
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NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
protein:increased expression:T cell |
RGD |
PMID:16094420 PMID:15914560 |
RGD:11344923, RGD:11352246 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
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RGD |
PMID:18077792 |
RGD:11251735 |
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
|
ISO |
mRNA:decreased expression: B cell |
RGD |
PMID:15467427 |
RGD:9589146 |
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
severity |
ISO |
DNA:SNP: :p.K751Q (rs13181) (human) |
RGD |
PMID:22739018 PMID:19484764 |
RGD:11252203, RGD:11252204 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Farp2 |
FERM, ARH/RhoGEF and pleckstrin domain protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062064 |
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NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212
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G |
Fas |
Fas cell surface death receptor |
disease_progression |
ISO |
|
RGD |
PMID:12901972 |
RGD:11049461 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:25741868 PMID:26619011 |
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NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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G |
Fcgr3a |
Fc gamma receptor 3A |
no_association |
ISO |
DNA:SNP:exon:p.F158V (rs396991) (human) |
RGD |
PMID:14563637 |
RGD:11352260 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Gnas |
GNAS complex locus |
disease_progression |
ISO |
DNA:polymorphism:393T>C (human) |
RGD |
PMID:17020971 |
RGD:1601379 |
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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G |
Hras |
HRas proto-oncogene, GTPase |
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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...
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Icam1 |
intercellular adhesion molecule 1 |
severity |
ISO |
|
RGD |
PMID:7658704 |
RGD:11354983 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ifng |
interferon gamma |
susceptibility |
ISO |
DNA:polymorphism: :847A>T(human) |
RGD |
PMID:19757192 |
RGD:10755703 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il19 |
interleukin 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
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RGD |
PMID:19074885 |
RGD:11051968 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
protein:decreased expression:plasma: |
RGD |
PMID:10870116 |
RGD:11522755 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18006695 PMID:10870116 |
RGD:11522755 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
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 chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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G |
Itga4 |
integrin subunit alpha 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21093051 |
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NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
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...
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NCBI chr 4:178,185,418...178,218,484
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G |
Lef1 |
lymphoid enhancer binding factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
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G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | 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...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Mir143 |
microRNA 143 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17892514 |
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NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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Mir145 |
microRNA 145 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17892514 |
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NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Ms4a1 |
membrane spanning 4-domains A1 |
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ISO |
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RGD |
PMID:19911856 |
RGD:2316994 |
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16706930 |
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NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Myd88 |
MYD88, innate immune signal transduction adaptor |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
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NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Nras |
NRAS proto-oncogene, GTPase |
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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...
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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P2rx7 |
purinergic receptor P2X 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11003599 |
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NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619
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Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
severity |
ISO |
protein:increased expression:B cell (human) |
RGD |
PMID:12673718 |
RGD:11541127 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Plcg2 |
phospholipase C, gamma 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia |
CTD ClinVar |
PMID:24869598 PMID:27542411 PMID:28492532 |
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NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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G |
Pmaip1 |
phorbol-12-myristate-13-acetate-induced protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr18:59,986,020...59,992,434
Ensembl chr18:59,986,017...59,992,429
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Polb |
DNA polymerase beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812
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Ppp2r5c |
protein phosphatase 2, regulatory subunit B', gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16038780 |
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NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
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G |
Pramex1 |
PRAME like, X-linked 1 |
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ISO |
protein:increased expression:mononuclear cell (human) |
RGD |
PMID:16620968 |
RGD:11535021 |
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prkd2 |
protein kinase D2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18758461 |
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NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16314473 |
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NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:12717436 PMID:14644997 PMID:15385933 PMID:15710330 PMID:15928039 PMID:16358218 PMID:17972951 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:27069254 PMID:28098151 PMID:30868567 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Qpct |
glutaminyl-peptide cyclotransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr 6:15,964,656...15,996,730
Ensembl chr 6:15,964,657...15,996,711
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Rbl2 |
RB transcriptional corepressor like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16038780 |
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NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572
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Sf3b1 |
splicing factor 3b, subunit 1 |
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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 |
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NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Sf3b2 |
splicing factor 3b, subunit 2 |
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ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:26619011 |
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NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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Sp140 |
SP140 nuclear body protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18758461 |
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NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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Tert |
telomerase reverse transcriptase |
disease_progression |
ISO |
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RGD |
PMID:17344921 |
RGD:11038662 |
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tfrc |
transferrin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16904380 |
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NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Thbd |
thrombomodulin |
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ISO |
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RGD |
PMID:21812019 |
RGD:5685033 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b |
TNF receptor superfamily member 10b |
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 chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf11a |
TNF receptor superfamily member 11A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16270354 |
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NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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Tnfsf11 |
TNF superfamily member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16270354 |
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NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
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Tnfsf13 |
TNF superfamily member 13 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:15488762 |
RGD:1549466 |
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
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Tnfsf8 |
TNF superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 |
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NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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G |
Topbp1 |
DNA topoisomerase II binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
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Tp53 |
tumor protein p53 |
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: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: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: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:20308654 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21115975 PMID:21159183 PMID:21187651 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:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 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: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:25293557 PMID:25294809 PMID:25339994 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 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:26534844 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:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30709875 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31300551 PMID:31494577 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32187361 PMID:32295079 PMID:32817165 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:34026625 PMID:34308366 PMID:34994652 PMID:36988593 PMID:10867151 More...
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RGD:11075074 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Vdr |
vitamin D receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12446453 |
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NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Xpo1 |
exportin 1 |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:26619011 |
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NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498
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G |
Xrcc1 |
X-ray repair cross complementing 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 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Card11 |
caspase recruitment domain family, member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:18323416 PMID:23027925 PMID:23129749 PMID:23149938 PMID:24033266 PMID:25352053 PMID:25741868 PMID:25930198 PMID:26861442 PMID:28492532 PMID:28824638 PMID:29472930 PMID:30940614 More...
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NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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Abcg2 |
ATP binding cassette subfamily G member 2 |
susceptibility |
ISO |
DNA:SNP: :rs6857600(human) |
RGD |
PMID:21918980 |
RGD:11080977 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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G |
Aicda |
activation-induced cytidine deaminase |
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ISO |
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RGD |
PMID:17251349 |
RGD:11039449 |
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Bcl2l2 |
Bcl2-like 2 |
disease_progression |
ISO |
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RGD |
PMID:28094768 |
RGD:14394511 |
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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G |
Bcl6 |
BCL6, transcription repressor |
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ISO |
diffuse large B-cell lymphoma |
RGD |
PMID:11821949 |
RGD:1600111 |
NCBI chr11:76,854,090...76,877,389
Ensembl chr11:76,854,090...76,877,389
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G |
Brd2 |
bromodomain containing 2 |
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ISO |
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RGD |
PMID:14563639 |
RGD:9586345 |
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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G |
Btk |
Bruton tyrosine kinase |
treatment |
ISO |
human cell in a mouse model |
RGD |
PMID:25662332 PMID:28348046 |
RGD:11040764, RGD:124713554 |
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
Cbx7 |
chromobox 7 |
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ISO |
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RGD |
PMID:17374722 |
RGD:11352707 |
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:20616215 |
RGD:5490532 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Csf2 |
colony stimulating factor 2 |
treatment |
ISO |
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RGD |
PMID:8469286 |
RGD:10450244 |
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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G |
Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11042651 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Eaf2 |
ELL associated factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20564326 |
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NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
severity treatment |
ISO ISS |
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MouseDO RGD |
PMID:23982173 PMID:29456795 |
RGD:10755356, RGD:126781726 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Il21r |
interleukin 21 receptor |
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ISO |
diffuse large B-cell lymphoma |
RGD |
PMID:11821949 |
RGD:1600111 |
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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G |
Jak3 |
Janus kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24837469 |
|
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Kat5 |
lysine acetyltransferase 5 |
severity |
ISO |
|
RGD |
PMID:17728759 |
RGD:9588481 |
NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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G |
Lgals1 |
galectin 1 |
|
IEP |
protein:increased expression:primary tumor (rat) |
RGD |
PMID:16733672 |
RGD:2316550 |
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
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G |
Mir143 |
microRNA 143 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17892514 |
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NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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G |
Mir145 |
microRNA 145 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17892514 |
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NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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G |
Nras |
NRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14633661 |
|
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14654083 |
|
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Ptpn1 |
protein tyrosine phosphatase, non-receptor type 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24531327 |
|
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
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G |
Stat5a |
signal transducer and activator of transcription 5A |
|
ISO |
|
RGD |
PMID:27018255 |
RGD:151665817 |
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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G |
Tnfsf8 |
TNF superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 |
|
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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G |
Tnfsf9 |
TNF superfamily member 9 |
|
ISO |
|
RGD |
PMID:10202049 |
RGD:2317349 |
NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
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|
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G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
treatment |
ISO |
|
RGD |
PMID:21481795 |
RGD:11038814 |
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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G |
Ahr |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35687267 |
|
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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G |
Akr1c3 |
aldo-keto reductase family 1, member C3 |
treatment |
ISO |
|
RGD |
PMID:26116659 |
RGD:11541128 |
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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G |
Atf7ip |
activating transcription factor 7 interacting protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413735 |
|
NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650
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G |
Bcl2l1 |
Bcl2-like 1 |
severity |
ISO |
|
RGD |
PMID:18216295 |
RGD:11531108 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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G |
Bcr |
BCR activator of RhoGEF and GTPase |
|
ISO |
BCR/ABL fusion |
RGD |
PMID:9310467 |
RGD:41404633 |
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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G |
Brd2 |
bromodomain containing 2 |
|
ISO |
|
RGD |
PMID:14563639 |
RGD:9586345 |
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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G |
Ccn2 |
cellular communication network factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24154679 |
|
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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G |
Ccnd1 |
cyclin D1 |
|
ISO |
mRNA:increased expression:B cell (mouse) |
RGD |
PMID:23169640 |
RGD:11353783 |
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
treatment susceptibility |
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 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2a_v2 |
cyclin-dependent kinase inhibitor 2A, variant 2 |
treatment |
ISO |
|
RGD |
PMID:21622646 PMID:16618932 |
RGD:11251772, RGD:11251751 |
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G |
Crlf2 |
cytokine receptor-like factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24141364 |
|
NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642
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G |
Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
treatment |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:21225912 |
RGD:11353807 |
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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G |
Dux4 |
double homeobox 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27019113 |
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NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565
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G |
Etv6 |
ETS variant transcription factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15217836 PMID:24413735 PMID:25807284 |
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NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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G |
F13a1 |
coagulation factor XIII A1 chain |
|
ISO |
protein:increased expression:B lymphoblast: |
RGD |
PMID:16894461 |
RGD:11041855 |
NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
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G |
F3 |
coagulation factor III, tissue factor |
treatment |
ISO |
|
RGD |
PMID:19874310 |
RGD:11341694 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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G |
Fh |
fumarate hydratase |
|
ISO |
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
|
ISO |
mRNA,protein:increased expression:bone marrow: |
RGD |
PMID:8562934 |
RGD:11049466 |
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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G |
Gata3 |
GATA binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24141364 |
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NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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G |
Ido1 |
indoleamine 2,3-dioxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35687267 |
|
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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G |
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 chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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G |
Il5 |
interleukin 5 |
|
ISO |
|
RGD |
PMID:15368290 |
RGD:7241068 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Irf4 |
interferon regulatory factor 4 |
|
ISO |
|
RGD |
PMID:25006123 PMID:20585039 PMID:21818355 |
RGD:11526159, RGD:11530030, RGD:11530020 |
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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G |
Irf8 |
interferon regulatory factor 8 |
|
ISO |
|
RGD |
PMID:20585039 |
RGD:11530030 |
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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G |
Isx |
intestine-specific homeobox |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35687267 |
|
NCBI chr19:13,217,637...13,239,754
Ensembl chr19:13,218,552...13,239,760
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G |
Mga |
MAX dimerization protein MGA |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413735 |
|
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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G |
Myb |
MYB proto-oncogene, transcription factor |
disease_progression |
ISO |
mRNA:splice variants:cds: |
RGD |
PMID:21853052 |
RGD:11532669 |
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
|
RGD |
PMID:22120021 |
RGD:7207416 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Pax5 |
paired box 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24013638 PMID:30643249 |
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NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
treatment |
ISO |
|
RGD |
PMID:22447844 |
RGD:11075097 |
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
Runx1 |
RUNX family transcription factor 1 |
onset |
ISO |
DNA:amplification CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15217836 PMID:24413735 PMID:21822204 |
RGD:6482828 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19796711 |
|
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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G |
Stat5a |
signal transducer and activator of transcription 5A |
|
ISO |
protein:increased phosphorylation:bone marrow (human) |
RGD |
PMID:27018255 |
RGD:151665817 |
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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G |
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 chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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G |
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 chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
Tcf3 |
transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19246562 |
|
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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G |
Tdo2 |
tryptophan 2,3-dioxygenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35687267 |
|
NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
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G |
Tfpi |
tissue factor pathway inhibitor |
treatment |
ISO |
|
RGD |
PMID:19874310 |
RGD:11341694 |
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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G |
Tnfsf13 |
TNF superfamily member 13 |
|
ISO |
|
RGD |
PMID:15488762 |
RGD:1549466 |
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
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G |
Tnfsf8 |
TNF superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 |
|
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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G |
Tp53 |
tumor protein p53 |
disease_progression |
ISO |
DNA:mutations: : |
RGD |
PMID:22699455 |
RGD:11075072 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
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 |
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NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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G |
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 |
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NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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G |
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 |
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NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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G |
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 chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
Recql4 |
RecQ like helicase 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:15964893 PMID:18716613 PMID:25741868 More...
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NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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G |
Cbl |
Cbl proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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G |
A4galt |
alpha 1,4-galactosyltransferase (P blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11482875 |
|
NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
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G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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G |
Bbc3 |
Bcl-2 binding component 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18573879 |
|
NCBI chr 1:77,013,281...77,022,509
Ensembl chr 1:77,014,543...77,022,509
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G |
Bcl2l2 |
Bcl2-like 2 |
|
ISO |
mRNA:increased expression:lymph node |
RGD |
PMID:28094768 |
RGD:14394511 |
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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G |
Brca1 |
BRCA1, DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Burkitt lymphoma |
ClinVar |
PMID:17262179 PMID:26467025 PMID:28492532 PMID:31911673 |
|
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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G |
Btk |
Bruton 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:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
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 chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Cct6b |
chaperonin containing TCP1 subunit 6B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr10:67,652,461...67,701,385
Ensembl chr10:67,652,546...67,701,284
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G |
Cd40 |
CD40 molecule |
treatment |
ISO |
human cell line in a mouse model |
RGD |
PMID:9192773 |
RGD:11520790 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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|
G |
Cd79b |
CD79b molecule |
treatment |
ISO |
human cells in mouse model |
RGD |
PMID:17374736 |
RGD:151665154 |
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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G |
Gna13 |
G protein subunit alpha 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774
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G |
Id3 |
inhibitor of DNA binding 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143595 PMID:23143597 |
|
NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
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G |
Mir21 |
microRNA 21 |
treatment |
ISO |
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RGD |
PMID:27991481 |
RGD:41404643 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mir23b |
microRNA 23b |
treatment |
ISO |
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RGD |
PMID:27991481 |
RGD:41404643 |
NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
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G |
Mllt11 |
MLLT11, transcription factor 7 cofactor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31587870 |
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NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
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ISO ISS |
OMIM:113970 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Burkitt lymphoma DNA:mutations:exons:multiple (human) |
MouseDO CTD ClinVar OMIM RGD |
PMID:8220424 PMID:25157968 PMID:27993330 PMID:8220424 PMID:8397370 |
RGD:1601453, RGD:10059619 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Pbx1 |
PBX homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1967982 PMID:17244677 |
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NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594
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G |
Pc |
pyruvate carboxylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
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NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
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NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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G |
Ret |
ret proto-oncogene |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
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NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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G |
Sall3 |
spalt-like transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
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NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Tcf3 |
transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1967982 PMID:17244677 |
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NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
protein:increased expression:alveolar system (human) |
RGD |
PMID:11488333 |
RGD:11528564 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:15956791 |
RGD:5135443 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:15956791 |
RGD:5135443 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Jak3 |
Janus kinase 3 |
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ISO |
DNA:missense mutation:exon:p.C1066R (c.3196T>C) (human) |
RGD |
PMID:25205547 |
RGD:11531127 |
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:31898847 |
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NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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G |
B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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G |
Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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G |
Card14 |
caspase recruitment domain family, member 14 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22521419 PMID:23905699 PMID:24033266 PMID:24999592 PMID:25734815 PMID:25741868 PMID:25989471 PMID:26203641 PMID:26358359 PMID:27706581 PMID:28492532 PMID:28887889 PMID:30387497 PMID:30697821 PMID:31971603 PMID:36174714 PMID:36221432 More...
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NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
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G |
Cd27 |
CD27 molecule |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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G |
Elane |
elastase, neutrophil expressed |
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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 More...
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NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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G |
Gng4 |
G protein subunit gamma 4 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi 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...
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NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il36rn |
interleukin 36 receptor antagonist |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
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 More...
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NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
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G |
Itk |
IL2-inducible T-cell kinase |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532 |
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NCBI chr10:30,753,344...30,814,685
Ensembl chr10:30,753,344...30,814,685
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G |
Lpin2 |
lipin 2 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory 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:27860302 PMID:28492532 PMID:33670882 More...
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NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
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G |
Lyst |
lysosomal trafficking regulator |
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IAGP ISO ISS |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome OMIM:214500 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
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:20301751 PMID:21878672 PMID:22883044 PMID:23436631 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:27781387 PMID:27872624 PMID:28145517 PMID:28193763 PMID:28458669 PMID:28492532 PMID:28748566 PMID:29519750 PMID:30383631 PMID:30815890 PMID:30819905 PMID:30899265 PMID:31245861 PMID:31906877 PMID:32099069 PMID:32531373 PMID:32542393 PMID:32638196 PMID:33179747 PMID:33217554 PMID:34083498 PMID:10384041 More...
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RGD:633300 |
NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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G |
Mefv |
MEFV innate immunity regulator, pyrin |
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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: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: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:25760918 PMID:25793047 PMID:25821352 PMID:25866490 PMID:25959027 PMID:25974247 PMID:26003477 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: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:29808155 PMID:29927949 PMID:30171907 PMID:30235678 PMID:30355575 PMID:30407166 PMID:30409984 PMID:30476289 PMID:30487145 PMID:30546872 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:31989427 PMID:32082075 PMID:32199921 PMID:32312770 PMID:32401353 PMID:32447396 PMID:32461654 PMID:32741030 PMID:32853466 PMID:32909274 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:35098403 PMID:35298548 PMID:35358658 PMID:35490273 PMID:35780723 More...
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NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Mmab |
metabolism of cobalamin associated B |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
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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:11111075 PMID:11313769 PMID:12444096 PMID:12634869 PMID:15149516 PMID:15188372 PMID:15536479 PMID:16255052 PMID:16835861 PMID:17105862 PMID:18414213 PMID:18839211 PMID:19011501 PMID:20194276 PMID:21228398 PMID:21425920 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:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26299986 PMID:26409462 PMID:26633545 PMID:26977311 PMID:26986117 PMID:27142780 PMID:27213830 PMID:28359055 PMID:28492532 PMID:28638818 PMID:29047407 PMID:29290516 PMID:31474985 PMID:32060250 PMID:32822427 PMID:33917151 PMID:34145613 PMID:35387795 More...
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NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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G |
Nlrc4 |
NLR family, CARD domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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G |
Nlrp12 |
NLR family, pyrin domain containing 12 |
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ISO |
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:27314497 PMID:27633793 PMID:28492532 PMID:29500522 PMID:30788684 PMID:31820221 More...
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NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
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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:30808881 PMID:32082075 PMID:32199921 More...
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NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi 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:32597225 PMID:32716958 More...
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NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Prf1 |
perforin 1 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 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: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...
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NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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G |
Psmb8 |
proteasome 20S subunit beta 8 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 |
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NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
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G |
Pstpip1 |
proline-serine-threonine phosphatase-interacting protein 1 |
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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 |
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NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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G |
Rab27a |
RAB27A, member RAS oncogene family |
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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:34573280 More...
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NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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G |
Sgsh |
N-sulfoglucosamine sulfohydrolase |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:22521419 PMID:23905699 PMID:24033266 PMID:25741868 PMID:26203641 PMID:27706581 PMID:28492532 PMID:30387497 PMID:30697821 PMID:31971603 PMID:36174714 PMID:36221432 More...
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NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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G |
Sh2d1a |
SH2 domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 PMID:28492532 PMID:31415280 More...
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NCBI chr X:121,373,693...121,401,923
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G |
Slc7a7 |
solute carrier family 7 member 7 |
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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...
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NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
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G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
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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 More...
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NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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G |
Stx11 |
syntaxin 11 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:24524345 PMID:25741868 PMID:28492532 |
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NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164
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G |
Stxbp2 |
syntaxin binding protein 2 |
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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:34050687 PMID:34249802 PMID:36588876 More...
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NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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G |
Tbce |
tubulin folding cofactor E |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory 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 More...
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NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Unc13d |
unc-13 homolog D |
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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:32375849 PMID:32542393 PMID:32638196 PMID:33746956 PMID:34339548 More...
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NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687
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G |
Xiap |
X-linked inhibitor of apoptosis |
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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...
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NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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G |
Ace |
angiotensin I converting enzyme |
severity |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) associated with acute leukemia;DNA:insertion/deletion:intron 16: |
RGD |
PMID:15806540 PMID:24819208 |
RGD:11038917, RGD:11530041 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
susceptibility |
ISO |
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) |
RGD |
PMID:19332043 |
RGD:11353804 |
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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G |
Fcgr3a |
Fc gamma receptor 3A |
treatment |
ISO |
associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) |
RGD |
PMID:27282998 |
RGD:11344967 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism: : rs1695(human) |
RGD |
PMID:25008867 |
RGD:10755412 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Itpa |
inosine triphosphatase |
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ISO |
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) |
RGD |
PMID:18685564 |
RGD:10766478 |
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility disease progression |
ISO |
associated with leukemia; associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon: associated with Neoplasms;DNA:SNP,haplotyep:promoter: |
RGD |
PMID:24819208 PMID:24453114 PMID:20930093 |
RGD:11530041, RGD:11530056, RGD:11530043 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mdm2 |
MDM2 proto-oncogene |
susceptibility |
ISO |
associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) |
RGD |
PMID:21706156 |
RGD:11073725 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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G |
Tp53 |
tumor protein p53 |
susceptibility |
ISO |
associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) |
RGD |
PMID:21706156 |
RGD:11073725 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Cyba |
cytochrome b-245 alpha chain |
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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: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:32040803 PMID:32081864 PMID:33717137 PMID:34547651 PMID:1415254 PMID:10759707 PMID:2243141 More...
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RGD:1600791, RGD:11040541, RGD:734861 |
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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G |
Cybb |
cytochrome b-245 beta chain |
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ISO ISS |
DNA:point mutations:promoter ClinVar Annotator: match by term: Chronic granulomatous disease CTD Direct Evidence: marker/mechanism|therapeutic DNA:mutations:promoter: |
MouseDO ClinVar CTD 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...
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RGD:1599664, RGD:11040566 |
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4125296 |
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Ifng |
interferon gamma |
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ISO |
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RGD |
PMID:22883043 |
RGD:6893353 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Ncf1 |
neutrophil cytosolic factor 1 |
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ISO ISS |
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...
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RGD:1600562, RGD:1624401 |
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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G |
Ncf2 |
neutrophil cytosolic factor 2 |
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ISO |
ClinVar Annotator: match by term: Chronic granulomatous disease |
ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:19624736 PMID:21190454 PMID:28035544 PMID:28492532 PMID:34547651 PMID:2393022 More...
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RGD:1624401 |
NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277
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G |
Ncf4 |
neutrophil cytosolic factor 4 |
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ISO |
ClinVar Annotator: match by term: Chronic granulomatous disease |
ClinVar |
PMID:19692703 PMID:28492532 PMID:29969437 PMID:34034819 |
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NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
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G |
Tlr5 |
toll-like receptor 5 |
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ISO |
protein:decreased expression:blood, neutrophil (human) |
RGD |
PMID:18155283 |
RGD:5130865 |
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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G |
Tlr9 |
toll-like receptor 9 |
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ISO |
protein:decreased expression:blood, neutrophil (human) |
RGD |
PMID:18155283 |
RGD:5130865 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Iftap |
intraflagellar transport associated protein |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas |
ClinVar |
PMID:8810255 PMID:11133745 PMID:24290284 PMID:25739914 PMID:28492532 |
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NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547
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G |
Rag1 |
recombination activating 1 |
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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: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:17476359 PMID:17572155 PMID:17890453 PMID:18056378 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:26829731 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: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:35902638 More...
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NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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G |
Rag2 |
recombination activating 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas |
OMIM CTD ClinVar |
PMID:2618670 PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:12200379 PMID:15025726 PMID:16960852 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:28492532 PMID:28600779 PMID:28747913 PMID:28769923 PMID:29051008 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 More...
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NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Kit |
KIT proto-oncogene receptor tyrosine kinase |
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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...
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NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Kitlg |
KIT ligand |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20559008 |
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NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
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Abca7 |
ATP binding cassette subfamily A member 7 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
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Abhd17a |
abhydrolase domain containing 17A, depalmitoylase |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,124,332...9,132,762
Ensembl chr 7:9,124,332...9,130,762
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Adamtsl5 |
ADAMTS-like 5 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,362,623...9,371,248
Ensembl chr 7:9,363,237...9,370,285
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Adat3 |
adenosine deaminase, tRNA-specific 3 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,109,070...9,113,673
Ensembl chr 7:9,101,187...9,115,340
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Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
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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...
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NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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Apc2 |
APC regulator of WNT signaling pathway 2 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310
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Arhgap45 |
Rho GTPase activating protein 45 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268
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Arid3a |
AT-rich interaction domain 3A |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599
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Atp5f1d |
ATP synthase F1 subunit delta |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
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Atp8b3 |
ATPase phospholipid transporting 8B3 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,175,544...9,195,449
Ensembl chr 7:9,175,391...9,195,442
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Btbd2 |
BTB domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,058,609...9,075,341
Ensembl chr 7:9,060,788...9,075,344
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C7h19orf25 |
similar to human chromosome 19 open reading frame 25 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,390,255...9,392,383
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Cbarp |
CACN subunit beta associated regulatory protein |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,566,637...9,575,204
Ensembl chr 7:9,566,364...9,575,204
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Cfd |
complement factor D |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
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Cirbp |
cold inducible RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,533,857...9,538,899
Ensembl chr 7:9,424,178...9,538,818
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Cnn2 |
calponin 2 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656
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Csnk1g2 |
casein kinase 1, gamma 2 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,076,739...9,095,082
Ensembl chr 7:9,076,740...9,095,052
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Dazap1 |
DAZ associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,423,673...9,448,116
Ensembl chr 7:9,424,178...9,538,818
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Efna2 |
ephrin A2 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,515,635...9,528,071
Ensembl chr 7:9,516,429...9,527,061
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Elane |
elastase, neutrophil expressed |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cyclical neutropenia DNA:mutations: : |
OMIM CTD ClinVar RGD |
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 PMID:14962902 PMID:15657182 PMID:16079102 PMID:16199547 PMID:16551967 PMID:16737875 PMID:16986121 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: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:33179225 PMID:33225392 PMID:34340247 PMID:21425445 More...
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RGD:10450519 |
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Fam174c |
family with sequence similarity 174 member C |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,531,995...9,533,705
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Fgf22 |
fibroblast growth factor 22 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,947,632...9,956,918
Ensembl chr 7:9,948,071...9,950,486
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Fstl3 |
follistatin like 3 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,923,574...9,929,223
Ensembl chr 7:9,923,576...9,939,639
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Gamt |
guanidinoacetate N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
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Gpx4 |
glutathione peroxidase 4 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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Grin3b |
glutamate ionotropic receptor NMDA type subunit 3B |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183
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Hcn2 |
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
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Izumo4 |
IZUMO family member 4 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,007,276...9,010,428
Ensembl chr 7:9,007,280...9,010,032
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Kiss1r |
KISS1 receptor |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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Klf16 |
KLF transcription factor 16 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,138,503...9,148,322
Ensembl chr 7:9,138,503...9,148,317
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Mbd3 |
methyl-CpG binding domain protein 3 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,312,961...9,320,166
Ensembl chr 7:9,313,098...9,320,165
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Med16 |
mediator complex subunit 16 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172
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Mex3d |
mex-3 RNA binding family member D |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,325,575...9,332,705
Ensembl chr 7:9,325,488...9,332,096
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Midn |
midnolin |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,548,100...9,559,605
Ensembl chr 7:9,549,650...9,559,752
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Misp |
mitotic spindle positioning |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,870,390...9,886,541
Ensembl chr 7:9,870,444...9,886,541
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Mknk2 |
MAPK interacting serine/threonine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,039,771...9,050,832
Ensembl chr 7:9,039,728...9,050,827
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Mob3a |
MOB kinase activator 3A |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,010,490...9,027,888
Ensembl chr 7:9,010,587...9,027,879
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Ndufs7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
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Onecut3 |
one cut homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,199,997...9,219,303
Ensembl chr 7:9,200,035...9,219,158 Ensembl chr 7:9,200,035...9,219,158
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Palm |
paralemmin |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,886,634...9,912,389
Ensembl chr 7:9,886,643...9,912,555
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Pcsk4 |
proprotein convertase subtilisin/kexin type 4 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,381,366...9,389,589
Ensembl chr 7:9,381,361...9,389,585
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Plk5 |
polo-like kinase 5 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,346,777...9,367,923
Ensembl chr 7:9,346,777...9,355,196
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Plppr3 |
phospholipid phosphatase related 3 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,831,162...9,842,434
Ensembl chr 7:9,831,162...9,845,296
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Polr2e |
RNA polymerase II, I and III subunit E |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643
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Polrmt |
RNA polymerase mitochondrial |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791
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Prss57 |
serine protease 57 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,915,667...9,922,996
Ensembl chr 7:9,917,484...9,922,922
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Prtn3 |
proteinase 3 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
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Ptbp1 |
polypyrimidine tract binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397
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Pwwp3a |
PWWP domain containing 3A, DNA repair factor |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,465,180...9,482,053
Ensembl chr 7:9,465,195...9,481,966
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R3hdm4 |
R3H domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512
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Reep6 |
receptor accessory protein 6 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,373,927...9,380,845
Ensembl chr 7:9,373,927...9,380,597
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Rexo1 |
RNA exonuclease 1 homolog |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,154,050...9,174,035
Ensembl chr 7:9,154,061...9,173,454
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Rnf126 |
ring finger protein 126 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,939,359...9,946,963
Ensembl chr 7:9,938,229...9,946,738
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Rps15 |
ribosomal protein S15 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450
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Sbno2 |
strawberry notch homolog 2 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,605,572...9,649,529
Ensembl chr 7:9,605,627...9,649,527
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Scamp4 |
secretory carrier membrane protein 4 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,101,504...9,113,929
Ensembl chr 7:9,101,489...9,113,967
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Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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G |
Tcf3 |
transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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G |
Tmem259 |
transmembrane protein 259 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932
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G |
Uqcr11 |
ubiquinol-cytochrome c reductase, complex III subunit XI |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,305,042...9,309,753
Ensembl chr 7:9,305,058...9,309,750
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G |
Wdr18 |
WD repeat domain 18 |
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ISO |
ClinVar Annotator: match by term: Cyclical neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
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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...
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NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21325069 |
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NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625222 |
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NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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G |
Alk |
ALK receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22474449 |
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NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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G |
B2m |
beta-2 microglobulin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7688627 |
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NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
Bcas2 |
BCAS2, pre-mRNA processing factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27356265 |
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NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389
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G |
Bcl2 |
BCL2, apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bcl2l2 |
Bcl2-like 2 |
disease_progression |
ISO |
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RGD |
PMID:28094768 |
RGD:14394511 |
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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G |
Bcl6 |
BCL6, transcription repressor |
disease_progression |
ISO |
diffuse large B-cell lymphoma |
RGD |
PMID:11821949 PMID:15701085 |
RGD:1600111, RGD:11530023 |
NCBI chr11:76,854,090...76,877,389
Ensembl chr11:76,854,090...76,877,389
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G |
Btk |
Bruton tyrosine kinase |
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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...
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NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
Card11 |
caspase recruitment domain family, member 11 |
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ISO |
DNA:missense mutations:exons:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25049379 PMID:26192916 PMID:18323416 |
RGD:11100036 |
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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G |
Cat |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccdc86 |
coiled-coil domain containing 86 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23828858 |
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NCBI chr 1:207,590,167...207,596,547
Ensembl chr 1:207,590,168...207,596,544
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G |
Cd22 |
CD22 molecule |
treatment |
ISO |
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RGD |
PMID:25708834 |
RGD:151665133 |
NCBI chr 1:86,116,376...86,132,782
Ensembl chr 1:86,117,459...86,132,322
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G |
Cd40 |
CD40 molecule |
susceptibility |
ISO |
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) |
RGD |
PMID:20473910 |
RGD:5490541 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd79a |
CD79a molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25049379 |
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NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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G |
Cd79b |
CD79b molecule |
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...
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RGD:151665203, RGD:11075852, RGD:151665133, RGD:151665120 |
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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G |
Cdk1 |
cyclin-dependent kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19223503 |
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NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21325069 |
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NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cltc |
clathrin heavy chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22474449 |
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NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737
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G |
Dicer1 |
dicer 1 ribonuclease III |
disease_progression |
ISO |
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RGD |
PMID:25195038 |
RGD:149735347 |
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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G |
Etv6 |
ETS variant transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
PMID:35053500 |
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NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20081860 PMID:28438623 |
RGD:126779596 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Fas |
Fas cell surface death receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26192916 |
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NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fcgr2a |
Fc gamma receptor 2A |
disease_progression |
ISO |
DNA:SNP: :rs1801274 (human) |
RGD |
PMID:27282998 |
RGD:11344967 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Foxo1 |
forkhead box O1 |
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ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
PMID:26314988 PMID:29721381 PMID:35079069 |
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NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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G |
Gli1 |
GLI family zinc finger 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625222 |
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NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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G |
Gstm1 |
glutathione S-transferase mu 1 |
treatment |
ISO |
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RGD |
PMID:20303013 |
RGD:10450835 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:SNP: :(rs1695)(human) |
RGD |
PMID:19338043 |
RGD:8547939 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
severity |
ISO |
DNA:deletion:cds: |
RGD |
PMID:20303013 |
RGD:10450835 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Icam1 |
intercellular adhesion molecule 1 |
disease_progression |
ISO |
proteion:increased expression:serum: |
RGD |
PMID:12598355 |
RGD:11354982 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Il21r |
interleukin 21 receptor |
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ISO |
diffuse large B-cell lymphoma |
RGD |
PMID:11821949 |
RGD:1600111 |
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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G |
Immp2l |
inner mitochondrial membrane peptidase subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27356265 |
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NCBI chr 6:58,070,035...58,970,165
Ensembl chr 6:58,070,283...58,969,840
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G |
Irf4 |
interferon regulatory factor 4 |
disease_progression |
ISO |
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RGD |
PMID:15701085 |
RGD:11530023 |
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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G |
Kmt2d |
lysine methyltransferase 2D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21804550 |
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NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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G |
Malt1 |
MALT1 paracaspase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21173233 |
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NCBI chr18:58,942,282...58,996,318
Ensembl chr18:58,942,299...58,994,260
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G |
Mki67 |
marker of proliferation Ki-67 |
disease_progression |
ISO |
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RGD |
PMID:20919850 |
RGD:6483541 |
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27356265 |
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NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
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...
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RGD:151665203, RGD:11075852, RGD:151665120 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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G |
Nectin2 |
nectin cell adhesion molecule 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27356265 |
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NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Diffuse large B cell lymphoma |
ClinVar |
PMID:21390130 PMID:22158541 PMID:23292937 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Nfkbia |
NFKB inhibitor alpha |
no_association |
ISO |
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RGD |
PMID:15198731 |
RGD:2298905 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Nom1 |
nucleolar protein with MIF4G domain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22474449 |
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NCBI chr 4:5,891,220...5,910,741
Ensembl chr 4:5,892,909...5,909,709
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G |
Pdpk1 |
3-phosphoinositide dependent protein kinase-1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21173233 |
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NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21173233 |
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pik3cb |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21173233 |
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NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
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G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21173233 |
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NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21173233 |
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NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
Prdm1 |
PR/SET domain 1 |
disease_progression |
ISO |
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RGD |
PMID:22321048 |
RGD:150530470 |
NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
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G |
Prdx3 |
peroxiredoxin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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G |
Prdx4 |
peroxiredoxin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
|
NCBI chr X:40,026,762...40,044,066
Ensembl chr X:40,026,651...40,044,066
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G |
Prmt5 |
protein arginine methyltransferase 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31123343 |
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NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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G |
Rangap1 |
RAN GTPase activating protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27150054 |
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NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
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G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19223503 |
|
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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G |
Sec31a |
SEC31 homolog A, COPII coat complex component |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22474449 |
|
NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273
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G |
Skp2 |
S-phase kinase associated protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18850583 |
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NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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G |
Smurf2 |
SMAD specific E3 ubiquitin protein ligase 2 |
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ISS |
|
MouseDO |
|
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NCBI chr10:91,761,798...91,862,485
Ensembl chr10:91,761,807...91,862,488
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sod3 |
superoxide dismutase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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G |
Syk |
spleen associated tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33782605 |
|
NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410
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G |
Tbl1xr1 |
TBL1X/Y related 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:28562391 PMID:32619424 PMID:32932517 PMID:35165208 More...
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NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055
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G |
Tp53 |
tumor protein p53 |
|
ISS 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: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: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:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:36988593 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Txnip |
thioredoxin interacting protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16081686 |
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NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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G |
Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
associated with Graves Disease; associated with Multiple Myeloma; |
RGD |
PMID:15785251 PMID:8935143 |
RGD:11039034, RGD:11039041 |
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Il1b |
interleukin 1 beta |
treatment |
ISO |
associated with Glioblastoma; |
RGD |
PMID:1331350 |
RGD:10450883 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
associated with Leukemia;protein:decreased expression:serum: |
RGD |
PMID:8698137 |
RGD:11528539 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Nat2 |
N-acetyltransferase 2 |
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ISO |
associated with Inflammation; |
RGD |
PMID:10739170 |
RGD:11532771 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Cyp2c79 |
cytochrome P450, family 2, subfamily c, polypeptide 79 |
susceptibility |
ISO |
associated with Ovarian Neoplasms: DNA:polymorphism: : |
RGD |
PMID:21702053 |
RGD:11353800 |
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G |
Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
susceptibility |
ISO |
associated with Ovarian Neoplasms: DNA:polymorphism: : |
RGD |
PMID:21702053 |
RGD:11353800 |
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
associated with Urologic Neoplasms;DNA:polymorphism:cds:p.I105V(human) |
RGD |
PMID:17593093 |
RGD:10755415 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
severity |
ISO |
associated with diffuse large B-cell lymphoma; DNA:deletion:cds: |
RGD |
PMID:20303013 |
RGD:10450835 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
susceptibility |
ISO |
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human) Breast Neoplasms;DNA:SNP: :3435 C>T(human) associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human) |
RGD |
PMID:17534875 PMID:22271208 PMID:25007187 |
RGD:11080964, RGD:11081001, RGD:11080979 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
susceptibility no_association |
ISO |
associated with neoplasm;DNA:SNP:rs12762549(human) |
RGD |
PMID:18294295 PMID:23188068 |
RGD:11080980, RGD:11080999 |
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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G |
Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
associated with Leukemia, Hairy Cell; associated with Hepatitis C, Chronic; |
RGD |
PMID:2461131 PMID:17660602 |
RGD:11039035, RGD:11039036 |
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Cyp2c79 |
cytochrome P450, family 2, subfamily c, polypeptide 79 |
susceptibility |
ISO |
associated with Ovarian Neoplasms: DNA:polymorphism: : |
RGD |
PMID:21702053 |
RGD:11353800 |
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G |
Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
susceptibility |
ISO |
associated with Ovarian Neoplasms: DNA:polymorphism: : associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) |
RGD |
PMID:21702053 PMID:19332043 |
RGD:11353800, RGD:11353804 |
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
treatment no_association |
ISO |
associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human) associated with Neoplasms;DNA:missense mutations: :multiple associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human) DNA:splice-site mutation, missense mutations: :multiple associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human) |
RGD |
PMID:12209976 PMID:19473056 PMID:19473056 PMID:11156223 PMID:23942539 |
RGD:11251736, RGD:11098817, RGD:11098817, RGD:11251738, RGD:11251737 |
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
treatment |
ISO |
associated with Colorectal Neoplasms;DNA:SNP |
RGD |
PMID:23543295 |
RGD:11340199 |
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
treatment |
ISO |
associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) |
RGD |
PMID:21047201 |
RGD:11098572 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
treatment |
ISO |
associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) |
RGD |
PMID:28924235 |
RGD:153323316 |
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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G |
Fcgr3a |
Fc gamma receptor 3A |
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ISO |
associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human) associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human) associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human) |
RGD |
PMID:21883784 PMID:20730791 PMID:19933905 |
RGD:11344964, RGD:11352256, RGD:11344973 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:SNP:cds:p.I105V (rs1695) (human) |
RGD |
PMID:23812950 |
RGD:10755330 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
associated with breast cancer |
RGD |
PMID:23812950 |
RGD:10755330 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Il1a |
interleukin 1 alpha |
treatment |
ISO |
associated with Carcinoma, Non-Small-Cell Lung |
RGD |
PMID:7666093 |
RGD:11051963 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Mdm2 |
MDM2 proto-oncogene |
susceptibility |
ISO |
associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) |
RGD |
PMID:24732641 |
RGD:11073715 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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G |
Pold1 |
DNA polymerase delta 1, catalytic subunit |
treatment |
ISO |
associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) |
RGD |
PMID:28924235 |
RGD:153323316 |
NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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G |
RT1-Bb |
RT1 class II, locus Bb |
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ISO |
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RGD |
PMID:27400856 |
RGD:14928329 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Slco1b2 |
solute carrier organic anion transporter family member 1B2 |
susceptibility no_association |
ISO |
associated with neoplasm;DNA:SNP:rs11045585(human) associated with neoplasm;DNA:SNP: rs11045585(human) |
RGD |
PMID:18294295 PMID:23188068 |
RGD:11080980, RGD:11080999 |
NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
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G |
Sod2 |
superoxide dismutase 2 |
susceptibility |
ISO |
associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) |
RGD |
PMID:20309628 |
RGD:11035278 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Tp53 |
tumor protein p53 |
susceptibility |
ISO |
associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) |
RGD |
PMID:24732641 |
RGD:11073715 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
susceptibility treatment |
ISO |
associated with neoplasms;DNA:polymorphism, repeat:promoter:-3156G>A, TA (human) associated with Carcinoma, Non-Small-Cell Lung; DNA:repeat:promoter:(TA) associated with Esophageal Neoplasms,Stomach Neoplasm;DNA:repeat:promoter:(TA) associated with Adenocarcinoma, Colorectal;DNA:repeat:promoter:(TA) (rs8175347) associated with Genital Neoplasms, Female;DNA:polymorphisms: : |
RGD |
PMID:15007088 PMID:16636344 PMID:23783485 PMID:20177420 PMID:24932285 |
RGD:10768826, RGD:10769339, RGD:10769336, RGD:10769334, RGD:10768867 |
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus (human) |
RGD |
PMID:24717943 |
RGD:8657092 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Bdkrb2 |
bradykinin receptor B2 |
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ISO |
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RGD |
PMID:10385260 |
RGD:4891039 |
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
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ISO |
associated with Sinusitis |
RGD |
PMID:19296494 |
RGD:4891487 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
severity |
ISO |
associated with Lymphoma, T-Cell |
RGD |
PMID:18395252 |
RGD:11354898 |
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl24 |
C-C motif chemokine ligand 24 |
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ISO |
associated with Sinusitis |
RGD |
PMID:19296494 |
RGD:4891487 |
NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
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G |
Ccl26 |
C-C motif chemokine ligand 26 |
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ISO |
associated with Sinusitis associated with Pleural Effusion |
RGD |
PMID:19296494 PMID:15947325 |
RGD:4891487, RGD:5130928 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
associated with Asthma |
RGD |
PMID:17983872 |
RGD:4145642 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Cebpb |
CCAAT/enhancer binding protein beta |
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ISO |
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RGD |
PMID:24078688 |
RGD:40903041 |
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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G |
Cyba |
cytochrome b-245 alpha chain |
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IAGP |
DNA:deletion:splice junction: |
RGD |
PMID:19406829 PMID:20660993 PMID:21512270 |
RGD:11040542, RGD:5134976, RGD:5134988 |
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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G |
Cybam1Sdi |
cytochrome b-245 alpha chain;mutant 1,Sdi |
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IAGP |
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RGD |
PMID:19406829 PMID:20660993 PMID:21512270 |
RGD:11040542, RGD:5134976, RGD:5134988 |
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G |
Fip1l1 |
factor interacting with PAPOLA and CPSF1 |
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ISO |
DNA:gene fusion |
RGD |
PMID:23114151 |
RGD:11075088 |
NCBI chr14:33,615,210...33,675,742
Ensembl chr14:33,617,720...33,675,708
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G |
Gata3 |
GATA binding protein 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:27315767 |
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NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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G |
Il5 |
interleukin 5 |
treatment severity |
IEP ISO |
CTD Direct Evidence: marker/mechanism associated with Toxocariasis associated with Dermatitis, Atopic;DNA:polymorphism:promoter:-703C>T (human) associated with Lymphoma, T-Cell |
CTD RGD |
PMID:1988543 PMID:11006010 PMID:11884473 PMID:1699772 PMID:1988543 PMID:14581138 PMID:18395252 More...
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RGD:625643, RGD:11354933, RGD:11354921, RGD:11354913, RGD:11354898 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Il5ra |
interleukin 5 receptor subunit alpha |
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ISO |
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RGD |
PMID:21762978 |
RGD:11354970 |
NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544
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G |
Kng2 |
kininogen 2 |
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IDA |
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RGD |
PMID:1937926 |
RGD:11059896 |
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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