|
G |
ADAR |
adenosine deaminase RNA specific |
|
ISO |
ClinVar Annotator: match by term: Congenital combined immunodeficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
|
|
G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
|
|
G |
CARMIL2 |
capping protein regulator and myosin 1 linker 2 |
|
ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:81,792,683...81,804,274
Ensembl chr 5:81,792,155...81,804,152
|
|
G |
CD27 |
CD27 molecule |
|
ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645 |
|
NCBI chr27:38,534,704...38,537,806
Ensembl chr27:38,534,707...38,537,604
|
|
G |
CD40LG |
CD40 ligand |
|
ISO |
DNA:polymorphism: :p.G219R (human) |
RGD |
PMID:21543760 |
RGD:5490593 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
|
|
G |
IL2RG |
interleukin 2 receptor subunit gamma |
|
ISO IAGP |
Severe combined immunodeficiency disease, X-linked ClinVar Annotator: match by term: Combined immunodeficiency, X-linked | ClinVar Annotator: match by term: X-Linked Combined Immunodeficiency Diseases |
OMIM OMIA ClinVar |
PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:7973658 PMID:8088810 PMID:9049783 PMID:9058718 PMID:9399950 PMID:9633906 PMID:10792291 PMID:10794430 PMID:10794431 PMID:11129345 PMID:12126929 PMID:14966353 PMID:16199547 PMID:16227049 PMID:18641513 PMID:20301584 PMID:21184155 PMID:22039266 PMID:22704516 PMID:23683512 PMID:24130776 PMID:24534054 PMID:25042067 PMID:25741868 PMID:25869287 PMID:27809915 PMID:28492532 PMID:28747913 PMID:29948574 PMID:30622570 PMID:30778380 PMID:31722780 PMID:31754342 PMID:31799703 PMID:31878988 PMID:31965297 PMID:32017983 PMID:32499645 PMID:32871045 PMID:33628209 PMID:33840678 PMID:37596154 More...
|
|
NCBI chr X:55,480,846...55,488,485
Ensembl chr X:55,481,092...55,484,751
|
|
G |
MYH7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:21310275 PMID:22857948 PMID:22975586 PMID:23233322 PMID:23283745 PMID:23299917 PMID:24033266 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
|
|
NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
|
|
|
G |
CD40LG |
CD40 ligand |
disease_progression |
ISO |
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM |
OMIM ClinVar RGD |
PMID:21841160 PMID:25741868 |
RGD:5490298 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
|
|
|
G |
LIG4 |
DNA ligase 4 |
|
ISO |
ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: Lig4 syndrome |
OMIM ClinVar |
PMID:1779494 PMID:2489227 PMID:2523926 PMID:5333585 PMID:7063650 PMID:10395545 PMID:11349135 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:16358361 PMID:16358631 PMID:16585603 PMID:18845326 PMID:21664875 PMID:23337116 PMID:23372718 PMID:24027040 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:26151233 PMID:26608917 PMID:26762768 PMID:27063650 PMID:27577878 PMID:27612988 PMID:27855655 PMID:27893162 PMID:28039949 PMID:28492532 PMID:28866308 PMID:29146883 PMID:30617623 PMID:30719430 PMID:31589614 PMID:31604460 PMID:31696992 PMID:32534991 PMID:34630384 PMID:35592332 More...
|
|
NCBI chr22:56,980,333...56,987,636
Ensembl chr22:56,980,622...56,983,357
|
|
|
G |
G6PD |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:122,217,317...122,231,862
Ensembl chr X:122,205,683...122,231,678
|
|
G |
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 |
OMIM ClinVar |
PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 More...
|
|
NCBI chr X:122,232,052...122,253,499
Ensembl chr X:122,235,878...122,250,562
|
|
|
G |
ANGPTL7 |
angiopoietin like 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:84,876,881...84,883,582
Ensembl chr 2:84,877,682...84,883,160
|
|
G |
CASZ1 |
castor zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:85,194,640...85,218,068
Ensembl chr 2:85,176,161...85,232,920
|
|
G |
DFFA |
DNA fragmentation factor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:85,364,819...85,372,473
Ensembl chr 2:85,364,851...85,373,772
|
|
G |
EXOSC10 |
exosome component 10 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:84,942,801...84,964,129
Ensembl chr 2:84,942,777...84,964,130
|
|
G |
G6PD |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT |
ClinVar |
PMID:5448 PMID:1303173 PMID:1924316 PMID:2572288 PMID:2836867 PMID:3393536 PMID:4359638 PMID:5641629 PMID:6015571 PMID:7959686 PMID:8860013 PMID:10734064 PMID:11852882 PMID:16356170 PMID:17018380 PMID:18677765 PMID:21153663 PMID:21479984 PMID:21931771 PMID:23006493 PMID:23057857 PMID:23144702 PMID:24033266 PMID:24505519 PMID:25201310 PMID:25741868 PMID:27040960 PMID:28492532 PMID:28756180 PMID:29300386 PMID:30045279 PMID:32387609 PMID:33636823 PMID:34620237 More...
|
|
NCBI chr X:122,217,317...122,231,862
Ensembl chr X:122,205,683...122,231,678
|
|
G |
KIF1B |
kinesin family member 1B |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476
|
|
G |
LOC479600 |
beta-catenin-interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:62,937,154...63,093,083
Ensembl chr 5:62,938,511...63,093,275
|
|
G |
LZIC |
leucine zipper and CTNNBIP1 domain containing |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:63,110,854...63,122,488
Ensembl chr 5:63,113,191...63,122,750
|
|
G |
MASP2 |
MBL associated serine protease 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797
|
|
G |
MTOR |
mechanistic target of rapamycin kinase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
|
|
G |
NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661
|
|
G |
PEX14 |
peroxisomal biogenesis factor 14 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:85,224,376...85,362,684
Ensembl chr 2:85,224,365...85,389,069
|
|
G |
PEX14 |
peroxisomal biogenesis factor 14 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:85,379,378...85,389,175
|
|
G |
PGD |
phosphogluconate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:85,393,526...85,408,714
Ensembl chr 2:85,393,819...85,408,272
|
|
G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
|
ISO |
ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive | ClinVar Annotator: match by term: p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16984281 PMID:17576681 PMID:24136356 PMID:24165795 PMID:24610295 PMID:25352054 PMID:25741868 PMID:26437962 PMID:26732860 PMID:27426521 PMID:27555459 PMID:27577878 PMID:27697496 PMID:28104464 PMID:28167755 PMID:28190860 PMID:28492532 PMID:29330011 PMID:29921932 PMID:30138677 PMID:30499059 PMID:30639166 PMID:31031754 PMID:31537641 PMID:32084423 PMID:32581362 PMID:32681977 PMID:33225392 PMID:34039074 PMID:34115277 PMID:34692603 PMID:35753512 PMID:36703223 More...
|
|
NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971
|
|
G |
RBP7 |
retinol binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:63,163,201...63,180,338
Ensembl chr 5:63,162,523...63,180,331
|
|
G |
SRM |
spermidine synthase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087
|
|
G |
TARDBP |
TAR DNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593
|
|
G |
UBE4B |
ubiquitination factor E4B |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:63,214,846...63,339,218
Ensembl chr 5:63,215,470...63,338,215
|
|
|
G |
IKBKB |
inhibitor of nuclear factor kappa B kinase subunit beta |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 15a |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30337470 |
|
NCBI chr16:23,359,551...23,419,114
Ensembl chr16:23,359,813...23,419,075
|
|
|
G |
ACAP3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,466,833...56,482,023
Ensembl chr 5:56,468,164...56,481,913
|
|
G |
ACTRT2 |
actin related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,659,055...57,660,479
Ensembl chr 5:57,659,262...57,660,395
|
|
G |
AGRN |
agrin |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745
|
|
G |
ANKRD65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376
|
|
G |
ARHGEF16 |
Rho guanine nucleotide exchange factor 16 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:58,031,246...58,051,936
Ensembl chr 5:58,030,459...58,051,936
|
|
G |
ATAD3A |
ATPase family AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746
|
|
G |
AURKAIP1 |
aurora kinase A interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388
|
|
G |
B3GALT6 |
beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771
|
|
G |
C1QTNF12 |
C1q and TNF related 12 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,433,555...56,438,419
Ensembl chr 5:56,433,552...56,438,339
|
|
G |
C5H1orf159 |
chromosome 5 C1orf159 homolog |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,296,633...56,330,358
Ensembl chr 5:56,297,635...56,307,616
|
|
G |
CALML6 |
calmodulin like 6 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424
|
|
G |
CCDC27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:58,266,091...58,280,997
Ensembl chr 5:58,269,308...58,279,829
|
|
G |
CCNL2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691
|
|
G |
CDK11 |
cyclin dependent kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,698,267...56,714,075
|
|
G |
CEP104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:58,301,767...58,339,920
Ensembl chr 5:58,305,589...58,335,438
|
|
G |
CFAP74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903
|
|
G |
CPTP |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845
|
|
G |
DVL1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491
|
|
G |
FAAP20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,114,784...57,122,854
|
|
G |
FNDC10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,660,721...56,662,696
|
|
G |
GABRD |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358
|
|
G |
GNB1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
|
|
G |
HES4 |
hes family bHLH transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,221,509...56,226,938
Ensembl chr 5:56,225,497...56,226,772
|
|
G |
HES5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,387,961...57,389,412
Ensembl chr 5:57,388,674...57,389,388
|
|
G |
INTS11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017
|
|
G |
ISG15 |
ISG15 ubiquitin like modifier |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695
|
|
G |
KLHL17 |
kelch like family member 17 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,186,077...56,193,671
Ensembl chr 5:56,187,922...56,192,983
|
|
G |
LRRC47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:58,286,909...58,297,961
Ensembl chr 5:58,288,392...58,297,996
|
|
G |
MEGF6 |
multiple EGF like domains 6 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:58,058,833...58,145,855
Ensembl chr 5:58,059,031...58,146,193
|
|
G |
MIB2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544
|
|
G |
MIR200A |
microRNA mir-200a |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151
|
|
G |
MIR200B |
microRNA mir-200b |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479
|
|
G |
MMEL1 |
membrane metalloendopeptidase like 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911
|
|
G |
MMP23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284
|
|
G |
MORN1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,227,265...57,275,292
Ensembl chr 5:57,227,315...57,277,669
|
|
G |
MRPL20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136
|
|
G |
MXRA8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668
|
|
G |
NADK |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529
|
|
G |
NOC2L |
NOC2 like nucleolar associated transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,172,399...56,185,993
Ensembl chr 5:56,172,446...56,185,932
|
|
G |
PANK4 |
pantothenate kinase 4 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,370,624...57,386,095
Ensembl chr 5:57,370,946...57,386,089
|
|
G |
PEX10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802
|
|
G |
PLCH2 |
phospholipase C eta 2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,303,160...57,368,568
Ensembl chr 5:57,302,996...57,371,468
|
|
G |
PLEKHN1 |
pleckstrin homology domain containing N1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,193,824...56,202,340
Ensembl chr 5:56,194,583...56,202,293
|
|
G |
PRDM16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976
|
|
G |
PRKCZ |
protein kinase C zeta |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664
|
|
G |
PRXL2B |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,429,973...57,434,371
Ensembl chr 5:57,429,212...57,434,210
|
|
G |
PUSL1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,482,802...56,485,778
Ensembl chr 5:56,482,363...56,485,783
|
|
G |
RER1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870
|
|
G |
RNF223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,290,548...56,293,473
|
|
G |
SAMD11 |
sterile alpha motif domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,119,207...56,175,267
Ensembl chr 5:56,151,171...56,172,055
|
|
G |
SCNN1D |
sodium channel epithelial 1 subunit delta |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595
|
|
G |
SDF4 |
stromal cell derived factor 4 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,407,506...56,421,515
Ensembl chr 5:56,407,807...56,421,430
|
|
G |
SKI |
SKI proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,144,178...57,216,385
Ensembl chr 5:57,145,825...57,214,403
|
|
G |
SLC35E2 |
solute carrier family 35 member E2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,715,798...56,739,464
Ensembl chr 5:56,718,550...56,738,420
|
|
G |
SMIM1 |
small integral membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:58,281,962...58,285,071
Ensembl chr 5:58,282,347...58,284,616
|
|
G |
SSU72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,620,803...56,650,131
Ensembl chr 5:56,620,805...56,650,131
|
|
G |
TAS1R3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,503,720...56,506,883
Ensembl chr 5:56,503,720...56,506,898
|
|
G |
TMEM240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693
|
|
G |
TMEM52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,900,297...56,906,565
Ensembl chr 5:56,901,674...56,906,500
|
|
G |
TMEM88B |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,569,512...56,573,353
Ensembl chr 5:56,569,814...56,571,310
|
|
G |
TNFRSF14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512
|
|
G |
TNFRSF18 |
TNF receptor superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741
|
|
G |
TNFRSF4 |
TNF receptor superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:9683594 PMID:10862081 PMID:16199547 PMID:17576681 PMID:19492091 PMID:21031596 PMID:23897980 PMID:24033266 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761
|
|
G |
TP73 |
tumor protein p73 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
|
|
G |
TPRG1L |
tumor protein p63 regulated 1 like |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:58,155,178...58,159,880
Ensembl chr 5:58,157,096...58,159,880
|
|
G |
TTC34 |
tetratricopeptide repeat domain 34 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:57,470,807...57,481,874
Ensembl chr 5:57,473,001...57,490,971
|
|
G |
TTLL10 |
tubulin tyrosine ligase like 10 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,364,247...56,390,899
Ensembl chr 5:56,336,884...56,388,693
|
|
G |
UBE2J2 |
ubiquitin conjugating enzyme E2 J2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,440,394...56,455,491
Ensembl chr 5:56,441,821...56,455,460
|
|
G |
VWA1 |
von Willebrand factor A domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:56,578,256...56,583,552
Ensembl chr 5:56,578,297...56,582,502
|
|
G |
WRAP73 |
WD repeat containing, antisense to TP73 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:58,160,438...58,176,011
Ensembl chr 5:58,160,431...58,175,920
|
|
|
G |
DOP1A |
DOP1 leucine zipper like protein A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 PMID:24589341 PMID:24698316 PMID:24931394 PMID:25741868 PMID:28492532 PMID:33098103 PMID:35040011 More...
|
|
NCBI chr12:43,477,738...43,585,482
Ensembl chr12:43,478,637...43,585,745
|
|
G |
ME1 |
malic enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr12:43,623,413...43,793,590
Ensembl chr12:43,624,945...43,828,775
|
|
G |
PGM3 |
phosphoglucomutase 3 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 |
OMIM ClinVar |
PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 PMID:17548465 PMID:17576681 PMID:24033266 PMID:24589341 PMID:24698316 PMID:24931394 PMID:25741868 PMID:26409661 PMID:26482871 PMID:28492532 PMID:28543917 PMID:29967067 PMID:32506361 PMID:33098103 PMID:35040011 More...
|
|
NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777
|
|
G |
PRSS35 |
serine protease 35 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr12:43,892,492...43,907,050
Ensembl chr12:43,891,652...43,905,441
|
|
G |
RWDD2A |
RWD domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr12:43,611,589...43,614,843
Ensembl chr12:43,611,670...43,614,603
|
|
G |
SNAP91 |
synaptosome associated protein 91 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr12:43,919,925...44,058,315
Ensembl chr12:43,919,925...44,058,616
|
|
G |
TPBG |
trophoblast glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr12:42,872,289...42,878,071
Ensembl chr12:42,871,239...42,875,151
|
|
G |
UBE3D |
ubiquitin protein ligase E3D |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr12:43,264,956...43,475,583
Ensembl chr12:43,282,372...43,476,086
|
|
|
G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 36 |
OMIM ClinVar |
PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 PMID:12514365 PMID:18384141 PMID:18414213 PMID:22351933 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24033266 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26529633 PMID:26974159 PMID:27076228 PMID:27116393 PMID:27221134 PMID:27693481 PMID:27766312 PMID:28104464 PMID:28302518 PMID:28492532 PMID:28632845 PMID:29178053 PMID:34008892 More...
|
|
NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
|
|
|
G |
BCL10 |
BCL10 immune signaling adaptor |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 37 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25365219 PMID:25741868 PMID:28492532 PMID:32008135 More...
|
|
NCBI chr 6:62,712,937...62,723,852
Ensembl chr 6:62,712,971...62,722,368
|
|
|
G |
C4H5orf58 |
chromosome 4 C5orf58 homolog |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr 4:41,656,638...41,665,051
|
|
G |
DOCK2 |
dedicator of cytokinesis 2 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency | ClinVar Annotator: match by term: Immunodeficiency 40 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26083206 PMID:28492532 PMID:29204803 More...
|
|
NCBI chr 4:41,779,950...42,177,957
Ensembl chr 4:41,780,436...42,235,177
|
|
G |
FOXI1 |
forkhead box I1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836
|
|
G |
INSYN2B |
inhibitory synaptic factor family member 2B |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:25741868 PMID:26083206 PMID:28492532 |
|
NCBI chr 4:41,871,751...41,987,310
Ensembl chr 4:41,964,892...42,024,748
|
|
G |
MIR103-1 |
microRNA mir-103-1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr 4:43,182,876...43,182,937
Ensembl chr 4:43,182,871...43,182,942
|
|
G |
PANK3 |
pantothenate kinase 3 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr 4:43,168,407...43,192,451
Ensembl chr 4:43,137,709...43,186,022
|
|
G |
RARS1 |
arginyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr 4:43,237,499...43,260,738
Ensembl chr 4:43,237,499...43,260,677
|
|
G |
SLIT3 |
slit guidance ligand 3 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr 4:42,506,680...43,099,053
Ensembl chr 4:42,508,426...43,094,714
|
|
G |
SPDL1 |
spindle apparatus coiled-coil protein 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr 4:42,214,997...42,235,282
Ensembl chr 4:41,780,436...42,235,177
|
|
G |
WWC1 |
WW and C2 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr 4:43,279,788...43,431,503
Ensembl chr 4:43,280,447...43,431,144
|
|
|
G |
TFRC |
transferrin receptor |
|
ISO |
ClinVar Annotator: match by term: TFRC-related combined immunodeficiency |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26642240 PMID:28492532 |
|
NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
|
|
|
G |
RELB |
RELB proto-oncogene, NF-kB subunit |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 53 | ClinVar Annotator: match by term: RELB-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26385063 PMID:28492532 |
|
NCBI chr 1:110,436,677...110,466,709
Ensembl chr 1:110,436,662...110,466,809
|
|
|
G |
IL21R |
interleukin 21 receptor |
|
ISO |
ClinVar Annotator: match by term: IL21R immunodeficiency |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22235133 PMID:23440042 PMID:24033266 PMID:25398835 PMID:25741868 PMID:26193622 PMID:28492532 PMID:33929673 More...
|
|
NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
|
|
|
G |
ACD |
ACD shelterin complex subunit and telomerase recruitment factor |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:81,789,915...81,792,725
Ensembl chr 5:81,789,997...81,792,639
|
|
G |
CARMIL2 |
capping protein regulator and myosin 1 linker 2 |
|
ISO |
ClinVar Annotator: match by term: CARMIL2-related condition | ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:27647349 PMID:27896283 PMID:28112205 PMID:28492532 PMID:29479355 More...
|
|
NCBI chr 5:81,792,683...81,804,274
Ensembl chr 5:81,792,155...81,804,152
|
|
|
G |
BACH2 |
BTB domain and CNC homolog 2 |
|
ISO |
ClinVar Annotator: match by term: BACH2-related condition | ClinVar Annotator: match by term: Immunodeficiency 60 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28530713 |
|
NCBI chr12:49,101,621...49,375,415
Ensembl chr12:49,106,523...49,460,286
|
|
|
G |
IVNS1ABP |
influenza virus NS1A binding protein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 70 |
OMIM ClinVar |
PMID:32499645 |
|
NCBI chr 7:18,430,970...18,444,573
Ensembl chr 7:18,431,553...18,444,573
|
|
|
G |
CD40 |
CD40 molecule |
|
ISO |
ClinVar Annotator: match by term: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 |
OMIM ClinVar |
PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 PMID:15307939 PMID:15731360 PMID:17344890 PMID:17949264 PMID:18446002 PMID:20702779 PMID:24033266 PMID:24122029 PMID:25741868 PMID:28492532 PMID:35729272 More...
|
|
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
|
|
|
G |
FERMT3 |
FERM domain containing kindlin 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr18:52,833,954...52,851,775
Ensembl chr18:52,834,001...52,851,667
|
|
G |
ITGB2 |
integrin subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency |
ClinVar |
|
|
NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
|
|
|
G |
FERMT3 |
FERM domain containing kindlin 3 |
|
ISO |
DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) |
RGD |
PMID:19064721 |
RGD:11352306 |
NCBI chr18:52,833,954...52,851,775
Ensembl chr18:52,834,001...52,851,667
|
|
G |
ITGB2 |
integrin subunit beta 2 |
susceptibility |
ISO IAGP |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 Leukocyte adhesion deficiency, type I DNA:polymorphisms:multiple (human) |
OMIM ClinVar OMIA RGD |
PMID:1346132 PMID:1346613 PMID:1347532 PMID:1352926 PMID:1590804 PMID:1694220 PMID:1968911 PMID:6142255 PMID:7143170 PMID:7686755 PMID:7705401 PMID:8291207 PMID:9536098 PMID:9884339 PMID:10512685 PMID:10886250 PMID:10907223 PMID:11105214 PMID:11703376 PMID:11873952 PMID:11882363 PMID:12322699 PMID:12377933 PMID:12488604 PMID:12963272 PMID:15080489 PMID:15260444 PMID:15357315 PMID:15911095 PMID:16130481 PMID:16199547 PMID:16595236 PMID:17576681 PMID:17875809 PMID:18157138 PMID:18369320 PMID:18675632 PMID:19171538 PMID:19203720 PMID:20164857 PMID:20549317 PMID:20807363 PMID:20859258 PMID:21103413 PMID:21195692 PMID:21228879 PMID:21275758 PMID:22134107 PMID:23417082 PMID:24033266 PMID:24338230 PMID:25135596 PMID:25514840 PMID:25703682 PMID:25741868 PMID:25858935 PMID:26497373 PMID:26639818 PMID:27492259 PMID:27722179 PMID:28445705 PMID:28492532 PMID:30041527 PMID:30412664 PMID:30919141 PMID:32189222 PMID:32279896 PMID:33391282 PMID:36353617 PMID:37582787 More...
|
RGD:6482224 |
NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
|
|
G |
TTN |
titin |
|
ISO |
ClinVar Annotator: match by term: LEUKOCYTE ADHESION DEFICIENCY, TYPE I |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25589632 PMID:26639818 PMID:27493940 PMID:28492532 PMID:32778822 More...
|
|
NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
|
|
|
G |
AHNAK |
AHNAK nucleoprotein |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,085,186...54,116,011
Ensembl chr18:54,100,942...54,113,424
|
|
G |
ARL2 |
ADP ribosylation factor like GTPase 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,169,225...52,175,782
|
|
G |
ASRGL1 |
asparaginase and isoaspartyl peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,215,920...54,238,094
Ensembl chr18:54,216,926...54,238,059
|
|
G |
ATG2A |
autophagy related 2A |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,258,070...52,277,953
Ensembl chr18:52,258,187...52,277,965
|
|
G |
ATL3 |
atlastin GTPase 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,306,544...53,364,012
Ensembl chr18:53,306,364...53,360,311
|
|
G |
B3GAT3 |
beta-1,3-glucuronyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,020,547...54,025,264
Ensembl chr18:54,020,736...54,024,910
|
|
G |
BAD |
BCL2 associated agonist of cell death |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405
|
|
G |
BATF2 |
basic leucine zipper ATF-like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,176,681...52,196,365
Ensembl chr18:52,175,549...52,195,404
|
|
G |
BEST1 |
bestrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,468,844...54,483,565
Ensembl chr18:54,468,844...54,480,311
|
|
G |
BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119
|
|
G |
C18H11orf98 |
chromosome 18 C11orf98 homolog |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,992,413...53,995,549
Ensembl chr18:53,988,600...53,995,543
|
|
G |
CAPN1 |
calpain 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757
|
|
G |
CATSPERZ |
catsper channel auxiliary subunit zeta |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,763,714...52,766,857
|
|
G |
CBLIF |
cobalamin binding intrinsic factor |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,334,769...50,350,598
Ensembl chr21:50,334,769...50,350,598
|
|
G |
CCDC86 |
coiled-coil domain containing 86 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,431,768...55,437,612
Ensembl chr18:55,432,310...55,438,286
|
|
G |
CCDC88B |
coiled-coil domain containing 88B |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,722,197...52,737,023
Ensembl chr18:52,708,838...52,736,728
|
|
G |
CD5 |
CD5 molecule |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,216,415...55,235,567
Ensembl chr18:55,217,276...55,235,405
|
|
G |
CD6 |
CD6 molecule |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,296,116...55,336,014
Ensembl chr18:55,296,986...55,335,880
|
|
G |
CDC42BPG |
CDC42 binding protein kinase gamma |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,319,363...52,338,531
Ensembl chr18:52,319,453...52,337,203
|
|
G |
CDCA5 |
cell division cycle associated 5 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,115,081...52,129,223
Ensembl chr18:52,115,203...52,120,817
|
|
G |
CHRM1 |
cholinergic receptor muscarinic 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,783,938...53,797,750
Ensembl chr18:53,795,326...53,796,708
|
|
G |
COX8A |
cytochrome c oxidase subunit VIIIA (ubiquitous) |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,048,902...53,050,528
Ensembl chr18:53,048,902...53,050,528
|
|
G |
CPSF7 |
cleavage and polyadenylation specific factor 7 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,986,709...55,012,499
Ensembl chr18:54,986,810...55,009,382
|
|
G |
CSKMT |
citrate synthase lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,990,875...53,992,445
Ensembl chr18:53,990,895...53,991,774
|
|
G |
CYB561A3 |
cytochrome b561 family member A3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,039,788...55,049,739
Ensembl chr18:55,043,942...55,049,143
|
|
G |
DAGLA |
diacylglycerol lipase alpha |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,727,932...54,754,077
Ensembl chr18:54,730,454...54,752,646
|
|
G |
DDB1 |
damage specific DNA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,064,720...55,097,623
Ensembl chr18:55,064,729...55,097,627
|
|
G |
DNAJC4 |
DnaJ heat shock protein family (Hsp40) member C4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,825,099...52,829,069
Ensembl chr18:52,825,100...52,831,523
|
|
G |
DTX4 |
deltex E3 ubiquitin ligase 4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,535,957...37,570,937
Ensembl chr18:37,538,342...37,591,589
|
|
G |
EEF1G |
eukaryotic translation elongation factor 1 gamma |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,062,420...54,075,181
|
|
G |
EHD1 |
EH domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,291,304...52,312,787
Ensembl chr18:52,291,327...52,311,526
|
|
G |
EML3 |
EMAP like 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,027,836...54,037,398
Ensembl chr18:54,028,188...54,037,163
|
|
G |
ESRRA |
estrogen related receptor alpha |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,755,547...52,762,938
Ensembl chr18:52,756,344...52,763,355
|
|
G |
FADS1 |
fatty acid desaturase 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,659,406...54,672,803
Ensembl chr18:54,659,406...54,670,623
|
|
G |
FADS2 |
fatty acid desaturase 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,552,105...54,581,553
Ensembl chr18:54,553,366...54,659,654
|
|
G |
FADS3 |
fatty acid desaturase 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,532,141...54,547,558
|
|
G |
FAM111A |
FAM111 trypsin like peptidase A |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,584,326...37,595,316
|
|
G |
FAU |
FAU ubiquitin like and ribosomal protein S30 fusion |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,072,705...52,074,337
Ensembl chr18:52,072,796...52,074,336
|
|
G |
FEN1 |
flap structure-specific endonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,680,627...54,686,502
Ensembl chr18:54,681,760...54,682,902
|
|
G |
FERMT3 |
FERM domain containing kindlin 3 |
|
ISO IAGP |
Leukocyte adhesion deficiency, type III ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
OMIM OMIA ClinVar |
PMID:9536098 PMID:12511588 PMID:16199547 PMID:17576681 PMID:18779414 PMID:19064721 PMID:19234460 PMID:19234463 PMID:20126836 PMID:20357244 PMID:21441448 PMID:22134107 PMID:22564402 PMID:24033266 PMID:24954630 PMID:25741868 PMID:26359933 PMID:28492532 PMID:37582787 More...
|
|
NCBI chr18:52,833,954...52,851,775
Ensembl chr18:52,834,001...52,851,667
|
|
G |
FLRT1 |
fibronectin leucine rich transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,926,735...52,958,089
Ensembl chr18:52,927,572...52,929,659
|
|
G |
FTH1 |
ferritin heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,466,167...54,468,733
Ensembl chr18:54,466,023...54,468,732
|
|
G |
GANAB |
glucosidase II alpha subunit |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,004,296...54,019,148
Ensembl chr18:54,003,689...54,018,157
|
|
G |
GNG3 |
G protein subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,958,798...53,960,363
Ensembl chr18:53,958,804...53,960,284
|
|
G |
GPHA2 |
glycoprotein hormone subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,211,748...52,244,591
Ensembl chr18:52,211,716...52,240,823 Ensembl chr18:52,211,716...52,240,823
|
|
G |
GPR137 |
G protein-coupled receptor 137 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,776,857...52,781,050
Ensembl chr18:52,776,858...52,779,783
|
|
G |
HNRNPUL2 |
heterogeneous nuclear ribonucleoprotein U like 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,942,515...53,953,343
|
|
G |
INCENP |
inner centromere protein |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,361,376...54,384,649
Ensembl chr18:54,361,378...54,384,641
|
|
G |
INTS5 |
integrator complex subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,998,828...54,004,127
Ensembl chr18:53,998,897...54,003,957
|
|
G |
ITGB2 |
integrin subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:25741868 |
|
NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
|
|
G |
KCNK4 |
potassium two pore domain channel subfamily K member 4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,767,151...52,775,053
Ensembl chr18:52,767,414...52,773,369
|
|
G |
LGALS12 |
galectin 12 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,428,894...53,446,767
Ensembl chr18:53,437,562...53,447,013
|
|
G |
LOC100687441 |
secretoglobin family 1D member 2-like |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,335,333...54,338,102
|
|
G |
LOC100688091 |
small nucleolar RNA SNORD22 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,841,419...53,850,465
|
|
G |
LOC102153191 |
membrane-spanning 4-domains subfamily A member 4A-like |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,497,486...50,504,173
|
|
G |
LOC102155828 |
membrane-spanning 4-domains subfamily A member 3-like |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,480,386...50,495,379
|
|
G |
LOC102155967 |
high affinity immunoglobulin epsilon receptor subunit beta-like |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,556,686...50,564,599
|
|
G |
LOC119864357 |
small nucleolar RNA SNORD28 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
|
|
G |
LOC119864358 |
small nucleolar RNA SNORD27 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
|
|
G |
LOC119864359 |
small nucleolar RNA SNORD26 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
|
|
G |
LOC119864360 |
small nucleolar RNA SNORD30 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
|
|
G |
LOC476047 |
solute carrier family 22 member 9 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,504,102...53,546,354
Ensembl chr18:53,504,625...53,546,200
|
|
G |
LOC476900 |
membrane-spanning 4-domains subfamily A member 4A |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,598,991...50,614,428
|
|
G |
LOC612036 |
solute carrier family 22 member 20-like |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:51,925,890...51,939,184
|
|
G |
LOC612553 |
membrane-spanning 4-domains subfamily A member 6D |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,569,747...50,579,721
|
|
G |
LRRC10B |
leucine rich repeat containing 10B |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,928,483...54,930,469
Ensembl chr18:54,929,548...54,930,426
|
|
G |
LRRN4CL |
LRRN4 C-terminal like |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,971,590...53,973,958
Ensembl chr18:53,972,490...53,973,203
|
|
G |
MACROD1 |
mono-ADP ribosylhydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,883,335...53,033,490
Ensembl chr18:52,883,362...53,162,034
|
|
G |
MAP4K2 |
mitogen-activated protein kinase kinase kinase kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,353,606...52,367,065
Ensembl chr18:52,353,232...52,366,712
|
|
G |
MARK2 |
microtubule affinity regulating kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,101,635...53,125,636
Ensembl chr18:53,101,624...53,151,561
|
|
G |
MEN1 |
menin 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
|
|
G |
MIR192 |
microRNA mir-192 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193
|
|
G |
MPEG1 |
macrophage expressed 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,530,895...37,535,334
Ensembl chr18:37,531,032...37,533,179
|
|
G |
MRPL16 |
mitochondrial ribosomal protein L16 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,323,112...50,326,855
|
|
G |
MRPL49 |
mitochondrial ribosomal protein L49 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,068,576...52,072,642
Ensembl chr18:52,069,605...52,072,591
|
|
G |
MS4A1 |
membrane spanning 4-domains A1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,722,142...50,734,934
Ensembl chr21:50,722,041...50,733,704
|
|
G |
MS4A13 |
membrane spanning 4-domains A13 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,740,313...55,762,266
Ensembl chr18:55,740,740...55,762,262
|
|
G |
MS4A14 |
membrane spanning 4-domains A14 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,663,060...50,690,248
|
|
G |
MS4A15 |
membrane spanning 4-domains A15 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,488,523...55,496,359
|
|
G |
MS4A2 |
membrane spanning 4-domains A2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,439,133...50,456,785
Ensembl chr21:50,450,024...50,456,785
|
|
G |
MS4A5 |
membrane spanning 4-domains A5 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,699,879...50,717,355
|
|
G |
MS4A7 |
membrane spanning 4-domains A7 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,640,800...50,657,703
Ensembl chr21:50,640,411...50,661,968
|
|
G |
MTA2 |
metastasis associated 1 family member 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,038,073...54,046,376
Ensembl chr18:54,038,212...54,046,059
|
|
G |
MYRF |
myelin regulatory factor |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,690,073...54,723,046
Ensembl chr18:54,692,453...54,723,085
|
|
G |
NAA40 |
N-alpha-acetyltransferase 40, NatD catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,054,662...53,077,156
Ensembl chr18:53,048,903...53,069,496
|
|
G |
NAALADL1 |
N-acetylated alpha-linked acidic dipeptidase like 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,136,258...52,148,462
Ensembl chr18:52,136,358...52,148,674
|
|
G |
NRXN2 |
neurexin 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,439,836...52,537,577
Ensembl chr18:52,439,230...52,536,401
|
|
G |
NUDT22 |
nudix hydrolase 22 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,828,973...52,831,550
Ensembl chr18:52,829,015...52,831,787
|
|
G |
NXF1 |
nuclear RNA export factor 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,884,512...53,895,168
Ensembl chr18:53,884,546...53,895,162
|
|
G |
OR10V1 |
olfactory receptor family 10 subfamily V member 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,071,666...37,072,595
Ensembl chr18:37,071,666...37,072,595
|
|
G |
OR4D11 |
olfactory receptor family 4 subfamily D member 11 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,235,626...37,236,561
Ensembl chr18:37,235,626...37,236,561
|
|
G |
OR4D6 |
olfactory receptor family 4 subfamily D member 6 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,275,086...37,276,021
Ensembl chr18:37,275,086...37,276,021
|
|
G |
OR4D9 |
olfactory receptor family 4 subfamily D member 9 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,225,144...37,226,200
Ensembl chr18:37,224,676...37,226,079
|
|
G |
OR4D9C |
olfactory receptor family 4 subfamily D member 9C |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,249,661...37,250,596
Ensembl chr18:37,249,661...37,250,596
|
|
G |
OR5A1 |
olfactory receptor family 5 subfamily A member 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,290,621...37,291,580
Ensembl chr18:37,290,621...37,291,580
|
|
G |
OR5A2 |
olfactory receptor family 5 subfamily A member 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,313,921...37,314,880
Ensembl chr18:37,313,921...37,315,366
|
|
G |
OR5AN1 |
olfactory receptor family 5 subfamily AN member 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,329,690...37,330,628
Ensembl chr18:37,329,690...37,330,744
|
|
G |
OSBP |
oxysterol binding protein |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,159,511...37,191,720
Ensembl chr18:37,159,576...37,189,731
|
|
G |
OTUB1 |
OTU deubiquitinase, ubiquitin aldehyde binding 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:40,225,531...40,226,507
Ensembl chr 3:40,225,474...40,226,612 Ensembl chr18:40,225,474...40,226,612
|
|
G |
PATL1 |
PAT1 homolog 1, processing body mRNA decay factor |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:37,109,288...37,138,756
Ensembl chr18:37,109,410...37,137,156
|
|
G |
PGA |
pepsinogen 5, group I (pepsinogen A) |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,131,441...55,140,119
Ensembl chr18:55,110,175...55,163,084
|
|
G |
PLAAT3 |
phospholipase A and acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,367,441...53,412,165
Ensembl chr18:53,368,030...53,398,290
|
|
G |
PLAAT4 |
phospholipase A and acyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,418,184...53,424,027
Ensembl chr18:53,418,368...53,423,886
|
|
G |
PLAAT5 |
phospholipase A and acyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,451,302...53,465,375
Ensembl chr18:53,450,387...53,463,314
|
|
G |
PLCB3 |
phospholipase C beta 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,793,848...52,809,065
Ensembl chr18:52,793,838...52,809,070
|
|
G |
POLR2G |
RNA polymerase II subunit G |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,916,431...53,919,724
Ensembl chr18:53,916,435...53,919,549
|
|
G |
PPP1R14B |
protein phosphatase 1 regulatory inhibitor subunit 14B |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,813,829...52,816,365
Ensembl chr18:52,814,174...52,816,365
|
|
G |
PPP2R5B |
protein phosphatase 2 regulatory subunit B'beta |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,244,588...52,253,055
Ensembl chr18:52,244,736...52,252,237
|
|
G |
PRDX5 |
peroxiredoxin 5 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,750,977...52,754,432
|
|
G |
PRPF19 |
pre-mRNA processing factor 19 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,389,902...55,400,241
Ensembl chr18:55,389,897...55,400,240
|
|
G |
PTGDR2 |
prostaglandin D2 receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,426,632...55,431,916
Ensembl chr18:55,429,308...55,430,510
|
|
G |
PYGM |
glycogen phosphorylase, muscle associated |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,398,192...52,410,731
Ensembl chr18:52,398,056...52,410,464
|
|
G |
RAB3IL1 |
RAB3A interacting protein like 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,483,669...54,528,199
Ensembl chr18:54,484,177...54,547,523
|
|
G |
RASGRP2 |
RAS guanyl releasing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,412,331...52,426,910
Ensembl chr18:52,412,367...52,426,916
|
|
G |
RCOR2 |
REST corepressor 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,096,599...53,101,427
Ensembl chr18:53,096,592...53,100,808
|
|
G |
ROM1 |
retinal outer segment membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,025,603...54,027,803
Ensembl chr18:54,025,606...54,027,375
|
|
G |
RPS6KA4 |
ribosomal protein S6 kinase A4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,708,849...52,720,561
Ensembl chr18:52,708,838...52,736,728
|
|
G |
RTN3 |
reticulon 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,239,893...53,298,020
Ensembl chr18:53,239,914...53,297,984
|
|
G |
SAC3D1 |
SAC3 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,148,661...52,151,920
Ensembl chr18:52,148,723...52,151,603
|
|
G |
SAXO4 |
stabilizer of axonemal microtubules 4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,943,646...54,952,100
Ensembl chr18:54,943,670...54,950,994
|
|
G |
SCGB1A1 |
secretoglobin family 1A member 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,187,487...54,191,493
Ensembl chr18:54,187,487...54,191,482
|
|
G |
SCGB2A2 |
secretoglobin family 2A member 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,313,503...54,316,375
|
|
G |
SDHAF2 |
succinate dehydrogenase complex assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,970,987...54,986,676
Ensembl chr18:54,971,658...54,987,394
|
|
G |
SF1 |
splicing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,380,058...52,393,833
Ensembl chr18:52,380,211...52,393,048
|
|
G |
SLC15A3 |
solute carrier family 15 member 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,354,987...55,363,672
|
|
G |
SLC22A10 |
solute carrier family 22 member 10 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,597,148...53,628,569
Ensembl chr18:53,597,533...53,628,165
|
|
G |
SLC22A11 |
solute carrier family 22 member 11 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,567,074...52,583,574
Ensembl chr18:52,568,396...52,583,844
|
|
G |
SLC22A12 |
solute carrier family 22 member 12 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,541,820...52,550,037
Ensembl chr18:52,542,497...52,549,655
|
|
G |
SLC22A6 |
solute carrier family 22 member 6 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,736,669...53,745,001
Ensembl chr18:53,736,959...53,744,396
|
|
G |
SLC22A8 |
solute carrier family 22 member 8 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,709,592...53,728,595
Ensembl chr18:53,709,591...53,728,578
|
|
G |
SLC3A2 |
solute carrier family 3 member 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,810,468...53,819,021
Ensembl chr18:53,810,398...53,819,021
|
|
G |
SNX15 |
sorting nexin 15 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,152,562...52,165,081
Ensembl chr18:52,152,561...52,165,048
|
|
G |
SPDYC |
speedy/RINGO cell cycle regulator family member C |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,020,593...52,061,076
Ensembl chr18:52,020,785...52,022,762
|
|
G |
SPINDOC |
spindlin interactor and repressor of chromatin binding |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,169,242...53,185,017
Ensembl chr18:53,174,021...53,185,370
|
|
G |
STIP1 |
stress induced phosphoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,854,262...52,868,187
Ensembl chr18:52,854,663...52,868,478
|
|
G |
STX3 |
syntaxin 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,298,040...50,322,773
Ensembl chr21:50,298,158...50,318,663
|
|
G |
STX5 |
syntaxin 5 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,862,432...53,883,091
Ensembl chr18:53,862,541...53,882,536
|
|
G |
SYT7 |
synaptotagmin 7 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,863,072...54,926,121
Ensembl chr18:54,861,754...54,921,367
|
|
G |
SYVN1 |
synoviolin 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,061,284...52,068,672
Ensembl chr18:52,060,347...52,067,582
|
|
G |
TAF6L |
TATA-box binding protein associated factor 6 like |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,898,748...53,910,836
Ensembl chr18:53,898,732...53,910,454
|
|
G |
TCN1 |
transcobalamin 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr21:50,356,333...50,369,215
Ensembl chr21:50,356,340...50,369,181
|
|
G |
TKFC |
triokinase and FMN cyclase |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,051,068...55,064,571
Ensembl chr18:55,051,097...55,064,526
|
|
G |
TM7SF2 |
transmembrane 7 superfamily member 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390
|
|
G |
TMEM109 |
transmembrane protein 109 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,377,331...55,389,810
Ensembl chr18:55,363,698...55,385,587
|
|
G |
TMEM132A |
transmembrane protein 132A |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,363,713...55,376,227
Ensembl chr18:55,363,698...55,385,587
|
|
G |
TMEM138 |
transmembrane protein 138 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,033,586...55,040,001
Ensembl chr18:55,033,589...55,039,325
|
|
G |
TMEM179B |
transmembrane protein 179B |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,896,518...53,898,716
Ensembl chr18:53,896,518...53,898,659
|
|
G |
TMEM216 |
transmembrane protein 216 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,988,893...55,018,601
|
|
G |
TMEM223 |
transmembrane protein 223 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,895,311...53,896,431
Ensembl chr18:53,895,349...53,896,283
|
|
G |
TMEM258 |
transmembrane protein 258 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,685,992...54,689,566
|
|
G |
TRMT112 |
tRNA methyltransferase activator subunit 11-2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,754,379...52,755,596
Ensembl chr18:52,754,721...52,755,730
|
|
G |
TRPT1 |
tRNA phosphotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,830,701...52,834,011
Ensembl chr18:52,831,405...52,833,998
|
|
G |
TTC9C |
tetratricopeptide repeat domain 9C |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,928,236...53,941,410
Ensembl chr18:53,932,696...53,940,930
|
|
G |
TUT1 |
terminal uridylyl transferase 1, U6 snRNA-specific |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:54,048,519...54,061,431
Ensembl chr18:54,048,563...54,061,415
|
|
G |
UBXN1 |
UBX domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,977,937...53,982,108
Ensembl chr18:53,978,062...53,982,111
|
|
G |
UQCC3 |
ubiquinol-cytochrome c reductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,984,203...53,985,496
Ensembl chr18:53,984,771...53,985,422
|
|
G |
VEGFB |
vascular endothelial growth factor B |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,821,348...52,824,649
Ensembl chr18:52,821,365...52,824,655
|
|
G |
VPS37C |
VPS37C subunit of ESCRT-I |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,204,918...55,212,902
Ensembl chr18:55,205,469...55,212,505
|
|
G |
VPS51 |
VPS51 subunit of GARP complex |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,083,896...52,106,129
Ensembl chr18:52,083,884...52,106,046
|
|
G |
VWCE |
von Willebrand factor C and EGF domains |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,099,193...55,125,412
Ensembl chr18:55,102,452...55,126,040
|
|
G |
WDR74 |
WD repeat domain 74 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,855,207...53,861,700
Ensembl chr18:53,855,282...53,861,698
|
|
G |
ZBTB3 |
zinc finger and BTB domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,924,158...53,926,505
Ensembl chr18:53,924,687...53,926,228
|
|
G |
ZFPL1 |
zinc finger protein like 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,110,956...52,114,993
Ensembl chr18:52,110,962...52,114,480
|
|
G |
ZFTA |
zinc finger translocation associated |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:53,233,537...53,236,899
Ensembl chr18:53,196,955...53,236,479
|
|
G |
ZNHIT2 |
zinc finger HIT-type containing 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:52,077,925...52,079,227
Ensembl chr18:52,077,991...52,079,184
|
|
G |
ZP1 |
zona pellucida glycoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:55,405,991...55,416,033
|
|
|
G |
APEX1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422
|
|
G |
ARHGEF40 |
Rho guanine nucleotide exchange factor 40 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,161,418...18,178,325
Ensembl chr15:18,160,835...18,179,029
|
|
G |
CHD8 |
chromodomain helicase DNA binding protein 8 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,430,601...18,492,564
Ensembl chr15:18,431,019...18,491,920
|
|
G |
EDDM3B |
epididymal protein 3B |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,017,182...18,020,521
|
|
G |
LOC106559796 |
uncharacterized LOC106559796 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,024,375...18,025,871
|
|
G |
LOC475395 |
ribonuclease pancreatic-like |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,034,337...18,065,925
Ensembl chr15:18,037,298...18,066,333
|
|
G |
LOC475399 |
heterogeneous nuclear ribonucleoprotein C |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,239,810...18,299,065
|
|
G |
METTL17 |
methyltransferase like 17 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,094,731...18,099,161
|
|
G |
METTL3 |
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,528,755...18,546,303
Ensembl chr15:18,528,772...18,546,531
|
|
G |
NDRG2 |
NDRG family member 2 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,106,651...18,115,026
Ensembl chr15:18,106,654...18,113,970
|
|
G |
OR6S1 |
olfactory receptor family 6 subfamily S member 1 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:17,933,904...17,935,530
Ensembl chr15:17,934,181...17,935,176
|
|
G |
OSGEP |
O-sialoglycoprotein endopeptidase |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173
|
|
G |
PIP4P1 |
phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:17,789,511...17,793,226
|
|
G |
PNP |
purine nucleoside phosphorylase |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
OMIM ClinVar |
PMID:1384322 PMID:1560016 PMID:3029074 PMID:8931706 PMID:9067751 PMID:9536098 PMID:9737781 PMID:11453975 PMID:12483996 PMID:15571269 PMID:16199547 PMID:17407325 PMID:17576681 PMID:19759001 PMID:22132981 PMID:22578971 PMID:22669887 PMID:23371835 PMID:24033266 PMID:24767876 PMID:25741868 PMID:28492532 PMID:30778343 PMID:31130284 PMID:32514656 PMID:32695102 PMID:33628209 More...
|
|
NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676
|
|
G |
RAB2B |
RAB2B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,494,417...18,512,144
Ensembl chr15:18,495,891...18,512,030
|
|
G |
RNASE10 |
ribonuclease A family member 10 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:17,845,687...17,908,672
Ensembl chr15:17,840,091...17,844,406 Ensembl chr15:17,840,091...17,844,406
|
|
G |
RNASE12 |
ribonuclease A family member 12 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:17,903,824...17,906,219
Ensembl chr15:17,903,983...17,906,201
|
|
G |
RNASE13 |
ribonuclease A family member 13 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,122,227...18,123,978
Ensembl chr15:18,122,946...18,123,719
|
|
G |
RNASE4 |
ribonuclease, RNase A family, 4 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:17,981,661...17,998,644
Ensembl chr15:17,981,647...18,004,631
|
|
G |
RNASE9 |
ribonuclease A family member 9 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:17,875,825...17,878,702
|
|
G |
RPGRIP1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735
|
|
G |
SALL2 |
spalt like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,558,181...18,571,941
Ensembl chr15:18,558,178...18,561,547
|
|
G |
SLC39A2 |
solute carrier family 39 member 2 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,099,310...18,102,884
Ensembl chr15:18,100,785...18,102,896
|
|
G |
SUPT16H |
SPT16 homolog, facilitates chromatin remodeling subunit |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,387,624...18,429,553
Ensembl chr15:18,388,512...18,429,553
|
|
G |
TMEM253 |
transmembrane protein 253 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,187,622...18,194,700
Ensembl chr15:18,187,616...18,193,427
|
|
G |
TOX4 |
TOX high mobility group box family member 4 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,512,270...18,528,293
Ensembl chr15:18,512,327...18,528,516
|
|
G |
TPPP2 |
tubulin polymerization promoting protein family member 2 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,118,516...18,126,661
Ensembl chr15:18,119,594...18,126,663
|
|
G |
ZNF219 |
zinc finger protein 219 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:18,178,861...18,186,650
Ensembl chr15:18,180,901...18,192,773
|
|
|
G |
ATP7A |
ATPase copper transporting alpha |
|
ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:24550228 PMID:28492532 |
|
NCBI chr X:60,203,336...60,356,525
Ensembl chr X:60,203,270...60,352,869
|
|
G |
ATRX |
ATRX chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980
|
|
G |
LOC100684983 |
cytochrome c oxidase subunit 7B, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:24550228 PMID:28492532 |
|
NCBI chr X:60,192,698...60,197,547
|
|
G |
MAGT1 |
magnesium transporter 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 PMID:25135935 PMID:25504528 PMID:25741868 PMID:25956530 PMID:26422833 PMID:27770395 PMID:28353193 PMID:28492532 PMID:31036665 PMID:31993868 PMID:32499645 PMID:32581362 PMID:33831577 More...
|
|
NCBI chr X:60,122,021...60,186,457
Ensembl chr X:60,128,571...60,186,507
|
|
G |
PGK1 |
phosphoglycerate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr X:60,374,743...60,396,244
Ensembl chr X:60,374,754...60,423,947
|
|