|
G |
Adar |
adenosine deaminase, RNA-specific |
|
ISO |
ClinVar Annotator: match by term: Congenital combined immunodeficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
|
|
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 chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
|
|
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 chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965
|
|
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 chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
DNA:polymorphism: :p.G219R (human) |
RGD |
PMID:21543760 |
RGD:5490593 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
|
|
G |
Il2rg |
interleukin 2 receptor subunit gamma |
|
ISO IMP |
ClinVar Annotator: match by term: Combined immunodeficiency, X-linked | ClinVar Annotator: match by term: X-Linked Combined Immunodeficiency Diseases CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
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:23683512 PMID:24534054 PMID:25042067 PMID:25741868 PMID:25869287 PMID:28492532 PMID:28747913 PMID:29948574 PMID:30622570 PMID:30778380 PMID:31799703 PMID:31965297 PMID:32499645 PMID:33628209 PMID:20111598 More...
|
RGD:2316325 |
NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
|
|
G |
Il2rgem1Kyo |
interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo |
|
IMP |
|
RGD |
PMID:20111598 |
RGD:2316325 |
|
|
G |
Il2rgem2Kyo |
interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo |
|
IMP |
|
RGD |
PMID:20111598 |
RGD:2316325 |
|
|
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: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 chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
|
|
G |
Tmco1 |
transmembrane and coiled-coil domains 1 |
|
ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:20018682 PMID:23320496 PMID:24033266 PMID:24194475 PMID:24424126 PMID:25627829 More...
|
|
NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
|
|
|
G |
Cd40 |
CD40 molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
|
|
G |
Cd40lg |
CD40 ligand |
disease_progression |
ISO |
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:mutations:exon, intron:multiple DNA:missense mutation:exon:p.T169N (526T>A) (human) |
ClinVar RGD CTD OMIM |
PMID:15611226 PMID:21841160 PMID:25741868 PMID:28492532 PMID:21841160 PMID:17553565 PMID:15358621 PMID:16508335 More...
|
RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
|
|
|
G |
Lig4 |
DNA ligase 4 |
|
ISO ISS |
ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: LIG4-related disorder OMIM:606593 CTD Direct Evidence: marker/mechanism DNA:missense mutation: :p.R278H (mouse) DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human) DNA:missense mutation: :p.Y288C (mouse) |
OMIM ClinVar MouseDO CTD RGD |
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:30607663 PMID:30719430 PMID:31589614 PMID:31604460 PMID:31696992 PMID:32534991 PMID:34630384 PMID:35592332 PMID:20133615 PMID:27063650 PMID:19451691 More...
|
RGD:13204717, RGD:13204707, RGD:8694074 |
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
|
|
|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:25741868 |
|
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
|
|
G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia CTD Direct Evidence: marker/mechanism DNA:mutation:splicing site: |
OMIM ClinVar CTD RGD |
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15229184 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18179816 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25068423 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 PMID:16333836 More...
|
RGD:12791265 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
|
|
|
G |
Angptl7 |
angiopoietin like 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:158,932,096...158,937,281
Ensembl chr 5:158,932,794...158,937,324
|
|
G |
C5h1orf127 |
similar to human chromosome 1 open reading frame 127 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
|
|
G |
Casz1 |
castor zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
|
|
G |
Cenps |
centromere protein S |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,563,917...159,573,534
|
|
G |
Clstn1 |
calsyntenin 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:160,031,235...160,094,585
Ensembl chr 5:160,031,308...160,094,583
|
|
G |
Cort |
cortistatin |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,560,591...159,562,032
|
|
G |
Ctnnbip1 |
catenin, beta-interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,961,961...160,010,942
Ensembl chr 5:159,961,928...160,010,939
|
|
G |
Dffa |
DNA fragmentation factor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,540,715...159,553,639
Ensembl chr 5:159,540,715...159,553,633
|
|
G |
Exosc10 |
exosome component 10 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:158,995,313...159,018,940
Ensembl chr 5:158,995,313...159,018,940
|
|
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:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
|
|
G |
Kif1b |
kinesin family member 1B |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
|
|
G |
Lzic |
leucine zipper and CTNNBIP1 domain containing |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,928,260...159,941,512
Ensembl chr 5:159,920,439...159,939,685
|
|
G |
Masp2 |
MBL associated serine protease 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
|
|
G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
|
|
G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
|
|
G |
Pex14 |
peroxisomal biogenesis factor 14 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
|
|
G |
Pgd |
phosphogluconate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778
|
|
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:28414062 PMID:28428270 PMID:28492532 PMID:29330011 PMID:29921932 PMID:30138677 PMID:30499059 PMID:30639166 PMID:31031754 PMID:31045771 PMID:31537641 PMID:32084423 PMID:32581362 PMID:32681977 PMID:32888943 PMID:33225392 PMID:33995405 PMID:34039074 PMID:34115277 PMID:34692603 PMID:35189965 PMID:35753512 PMID:36703223 More...
|
|
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
|
|
G |
Rbp7 |
retinol binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,889,723...159,894,338
Ensembl chr 5:159,889,723...159,894,339
|
|
G |
Srm |
spermidine synthase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405
|
|
G |
Tardbp |
TAR DNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
|
|
G |
Ube4b |
ubiquitination factor E4B |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,766,829...159,870,509
Ensembl chr 5:159,766,829...159,870,509
|
|
|
G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
|
ISO ISS |
OMIM:618204 ClinVar Annotator: match by term: Immunodeficiency 15a |
OMIM MouseDO ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30337470 |
|
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
|
|
|
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 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481
|
|
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 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
|
|
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 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
|
|
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 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
|
|
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 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
|
|
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 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
|
|
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 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
|
|
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 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
|
|
G |
C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
|
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 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
|
|
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 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
|
|
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 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
|
|
G |
Cdk11b |
cyclin-dependent kinase 11B |
|
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 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
|
|
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 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
|
|
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 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
|
|
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 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
|
|
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 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
|
|
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 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
|
|
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 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
|
|
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 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
|
|
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 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
|
|
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 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
|
|
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 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
|
|
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 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
|
|
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 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
|
|
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 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
|
|
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 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
|
|
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 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
|
|
G |
Mir200a |
microRNA 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 5:166,648,494...166,648,582
|
|
G |
Mir200b |
microRNA 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 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
|
|
G |
Mir429 |
microRNA 429 |
|
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 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
|
|
G |
Mmel1 |
membrane metallo-endopeptidase-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 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
|
|
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 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
|
|
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 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
|
|
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 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
|
|
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 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
|
|
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 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
|
|
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 5:166,820,150...166,831,949
Ensembl chr 5:166,820,161...166,831,949
|
|
G |
Pank4 |
pantothenate kinase 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 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
|
|
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 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
|
|
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 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
|
|
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 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
|
|
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 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
|
|
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 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
|
|
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 5:165,462,610...165,465,213
|
|
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 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611
|
|
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 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
|
|
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 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751
|
|
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 5:166,831,681...166,859,805
Ensembl chr 5:166,831,663...166,850,009
|
|
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 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
|
|
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 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
|
|
G |
Slc35e2b |
solute carrier family 35, member E2B |
|
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 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
|
|
G |
Smim1 |
small integral membrane protein 1 (Vel blood group) |
|
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 5:164,579,327...164,584,650
|
|
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 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
|
|
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 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742
|
|
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 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
|
|
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 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433
|
|
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 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
|
|
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 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
|
|
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 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
|
|
G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency | ClinVar Annotator: match by term: Immunodeficiency 16 |
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 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
|
|
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 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
|
|
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 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
|
|
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 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
|
|
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 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
|
|
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 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
|
|
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 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
|
|
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 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
|
|
|
G |
Dop1a |
DOP1 leucine zipper like protein A |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | 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 chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353
|
|
G |
Me1 |
malic enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 |
|
NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304
|
|
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:30157810 PMID:31980526 PMID:32506361 PMID:33098103 PMID:35040011 More...
|
|
NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022
|
|
G |
Prss35 |
serine protease 35 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr 8:87,714,449...87,731,009
Ensembl chr 8:87,714,966...87,731,009
|
|
G |
Rwdd2a |
RWD domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 |
|
NCBI chr 8:87,536,153...87,539,301
Ensembl chr 8:87,536,176...87,539,300
|
|
G |
Snap91 |
synaptosome associated protein 91 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr 8:87,738,056...87,852,690
Ensembl chr 8:87,738,824...87,852,367
|
|
G |
Tpbg |
trophoblast glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr 8:86,793,953...86,797,324
Ensembl chr 8:86,793,749...86,797,741
|
|
G |
Ube3d |
ubiquitin protein ligase E3D |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr 8:87,245,503...87,413,104
Ensembl chr 8:87,245,589...87,413,057
|
|
|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION | 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 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
|
|
|
G |
Bcl10 |
BCL10, immune signaling adaptor |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 37 |
OMIM ClinVar |
PMID:9536098 PMID:9989495 PMID:10380920 PMID:10408400 PMID:17576681 PMID:24033266 PMID:25365219 PMID:25741868 PMID:28492532 PMID:32008135 More...
|
|
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
|
|
|
G |
C10h5orf58 |
similar to human chromosome 5 open reading frame 58 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:18,690,958...18,697,224
Ensembl chr10:18,688,847...18,697,220
|
|
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 chr10:18,827,237...19,244,832
Ensembl chr10:18,827,239...19,244,808
|
|
G |
Foxi1 |
forkhead box I1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231
|
|
G |
Gabrp |
gamma-aminobutyric acid type A receptor subunit pi |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:18,143,031...18,169,595
Ensembl chr10:18,143,038...18,169,516
|
|
G |
Insyn2b |
inhibitory synaptic factor family member 2B |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:25741868 PMID:26083206 PMID:28492532 |
|
NCBI chr10:18,916,721...19,023,859
Ensembl chr10:19,003,131...19,022,139
|
|
G |
Kcnip1 |
potassium voltage-gated channel interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:18,219,519...18,588,833
Ensembl chr10:18,219,519...18,589,045
|
|
G |
Kcnmb1 |
potassium calcium-activated channel subfamily M regulatory beta subunit 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798
|
|
G |
Lcp2 |
lymphocyte cytosolic protein 2 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:18,642,600...18,689,562
Ensembl chr10:18,642,658...18,689,559
|
|
G |
Mir103a1 |
microRNA 103a-1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:20,244,412...20,244,497
Ensembl chr10:20,244,412...20,244,497
|
|
G |
Pank3 |
pantothenate kinase 3 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:20,229,129...20,252,955
Ensembl chr10:20,229,129...20,252,955
|
|
G |
Rars1 |
arginyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:20,270,744...20,295,192
Ensembl chr10:20,270,483...20,295,196
|
|
G |
Slit3 |
slit guidance ligand 3 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:19,571,798...20,156,634
Ensembl chr10:19,571,684...20,156,634
|
|
G |
Spdl1 |
spindle apparatus coiled-coil protein 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:19,269,125...19,294,213
Ensembl chr10:19,269,127...19,294,127
|
|
G |
Wwc1 |
WW and C2 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:20,300,735...20,454,393
Ensembl chr10:20,300,833...20,454,497
|
|
|
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 chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
|
|
|
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 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
|
|
|
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 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
|
|
|
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 chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
|
|
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 chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965
|
|
|
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 chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
|
|
|
G |
Ivns1abp |
influenza virus NS1A binding protein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 70 |
OMIM ClinVar |
PMID:25741868 PMID:32499645 |
|
NCBI chr13:63,427,040...63,446,701
Ensembl chr13:63,427,041...63,446,701
|
|
|
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 chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
|
|
|
G |
Fermt3 |
FERM domain containing kindlin 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
|
|
G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
DNA:mutations:cds:p.D231H, G284S (human) DNA:mutation:exon:p.R188X(human) DNA:mutations:multiple DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human) ClinVar Annotator: match by term: Leukocyte adhesion deficiency CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9653089 PMID:1968911 PMID:10886250 PMID:21103413 PMID:20549317 PMID:14512306 More...
|
RGD:1600220, RGD:6482222, RGD:6482223, RGD:6482224, RGD:6482225 |
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
|
|
|
G |
Dicer1 |
dicer 1 ribonuclease III |
|
ISO |
ClinVar Annotator: match by term: Lymphocyte function-associated antigen 1 immunodeficiency |
ClinVar |
PMID:19556464 PMID:25741868 PMID:26639818 PMID:26925222 |
|
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
|
|
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 chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
|
|
G |
Itgb2 |
integrin subunit beta 2 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 OMIM:116920 CTD Direct Evidence: marker/mechanism DNA:polymorphisms:multiple (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:1346132 PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 PMID:1968911 PMID:6142255 PMID:7143170 PMID:7686755 PMID:7705401 PMID:7901025 PMID:9536098 PMID:9884339 PMID:10712675 PMID:10886250 PMID:11703376 PMID:11882363 PMID:12377933 PMID:12488604 PMID:14512306 PMID:16199547 PMID:16595236 PMID:17576681 PMID:17875809 PMID:18675632 PMID:19171538 PMID:20549317 PMID:20807363 PMID:21103413 PMID:21195692 PMID:22134107 PMID:24033266 PMID:24338230 PMID:25135596 PMID:25514840 PMID:25703682 PMID:25741868 PMID:25858935 PMID:26497373 PMID:26639818 PMID:27492259 PMID:28445705 PMID:28492532 PMID:30041527 PMID:30412664 PMID:30919141 PMID:32279896 PMID:33391282 PMID:36353617 PMID:20549317 More...
|
RGD:6482224 |
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
|
|
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 chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
|
|
|
G |
Ahnak |
AHNAK nucleoprotein |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926
|
|
G |
Arl2 |
ADP-ribosylation factor like GTPase 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119
|
|
G |
Asrgl1 |
asparaginase and isoaspartyl peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,006,103...206,027,115
Ensembl chr 1:206,006,109...206,027,108
|
|
G |
Atg2a |
autophagy related 2A |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242
|
|
G |
Atl3 |
atlastin GTPase 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,680,958...204,727,360
Ensembl chr 1:204,680,968...204,723,354
|
|
G |
B3gat3 |
beta-1,3-glucuronyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,817,374...205,823,928
Ensembl chr 1:205,817,378...205,837,807
|
|
G |
Bad |
BCL2-associated agonist of cell death |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
|
|
G |
Batf2 |
basic leucine zipper ATF-like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889
|
|
G |
Best1 |
bestrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
|
|
G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
|
|
G |
Capn1 |
calpain 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
|
|
G |
Catsperz |
catsper channel auxiliary subunit zeta |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,114,816...204,118,582
|
|
G |
Cblif |
cobalamin binding intrinsic factor |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
|
|
G |
Ccdc86 |
coiled-coil domain containing 86 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,590,167...207,596,547
Ensembl chr 1:207,590,168...207,596,544
|
|
G |
Ccdc88b |
coiled-coil domain containing 88B |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970
|
|
G |
Cd5 |
Cd5 molecule |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313
|
|
G |
Cd6 |
Cd6 molecule |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,442,873...207,481,703
Ensembl chr 1:207,442,877...207,481,634
|
|
G |
Cdc42bpg |
CDC42 binding protein kinase gamma |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502
|
|
G |
Cdca5 |
cell division cycle associated 5 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023
|
|
G |
Chrm1 |
cholinergic receptor, muscarinic 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,567,226...205,583,001
Ensembl chr 1:205,567,220...205,582,356
|
|
G |
Cox8a |
cytochrome c oxidase subunit 8A |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,402,118...204,404,439
|
|
G |
Cpsf7 |
cleavage and polyadenylation specific factor 7 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,167,690...207,191,938
Ensembl chr 1:207,167,859...207,191,905
|
|
G |
Cyb561a3 |
cytochrome b561 family, member A3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,216,185...207,237,575
Ensembl chr 1:207,226,230...207,237,571
|
|
G |
Cym |
chymosin |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:194,828,739...194,839,096
Ensembl chr 2:194,828,739...194,839,096
|
|
G |
Dagla |
diacylglycerol lipase, alpha |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,890,635...206,947,332
Ensembl chr 1:206,890,638...206,947,232
|
|
G |
Ddb1 |
damage-specific DNA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,252,890...207,278,685
Ensembl chr 1:207,252,890...207,278,676
|
|
G |
Dnajc4 |
DnaJ heat shock protein family (Hsp40) member C4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,178,189...204,182,412
Ensembl chr 1:204,178,191...204,182,387
|
|
G |
Dtx4 |
deltex E3 ubiquitin ligase 4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,457,719...209,545,163
Ensembl chr 1:209,460,735...209,492,818
|
|
G |
Eef1g |
eukaryotic translation elongation factor 1 gamma |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,860,713...205,871,319
Ensembl chr 1:205,860,698...205,872,382
|
|
G |
Ehd1 |
EH-domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212
|
|
G |
Eml3 |
EMAP like 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,826,354...205,837,790
Ensembl chr 1:205,817,378...205,837,807
|
|
G |
Esrra |
estrogen related receptor, alpha |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
|
|
G |
Fads1 |
fatty acid desaturase 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,827,724...206,842,734
Ensembl chr 1:206,827,765...206,842,734
|
|
G |
Fads2 |
fatty acid desaturase 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
|
|
G |
Fads3 |
fatty acid desaturase 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,685,667...206,702,538
Ensembl chr 1:206,685,894...206,704,769
|
|
G |
Fam111a |
FAM111 trypsin like peptidase A |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
|
|
G |
Fau |
FAU ubiquitin like and ribosomal protein S30 fusion |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742
|
|
G |
Fen1 |
flap structure-specific endonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,845,126...206,849,821
Ensembl chr 1:206,844,884...206,850,003
|
|
G |
Fermt3 |
FERM domain containing kindlin 3 |
|
ISO ISS |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 OMIM:612840 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:12511588 PMID:16199547 PMID:17576681 PMID:18779414 PMID:19064721 PMID:19234460 PMID:19234463 PMID:20357244 PMID:21441448 PMID:22134107 PMID:22564402 PMID:24033266 PMID:25741868 PMID:28492532 PMID:19234463 More...
|
RGD:11352305 |
NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
|
|
G |
Flrt1 |
fibronectin leucine rich transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750
|
|
G |
Fth1 |
ferritin heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
|
|
G |
Ganab |
glucosidase II alpha subunit |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695
|
|
G |
Gng3 |
G protein subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,731,837...205,733,603
Ensembl chr 1:205,731,837...205,733,603
|
|
G |
Gpha2 |
glycoprotein hormone subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270
|
|
G |
Gpr137 |
G protein-coupled receptor 137 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,129,636...204,132,622
Ensembl chr 1:204,129,636...204,133,082
|
|
G |
Hnrnpul2 |
heterogeneous nuclear ribonucleoprotein U-like 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,713,431...205,725,553
Ensembl chr 1:205,711,886...205,725,553
|
|
G |
Incenp |
inner centromere protein |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,520,655...206,550,575
Ensembl chr 1:206,523,380...206,553,265
|
|
G |
Ints5 |
integrator complex subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,788,906...205,793,685
Ensembl chr 1:205,788,906...205,793,685
|
|
G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:25741868 |
|
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
|
|
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 chr 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925
|
|
G |
Lgals12 |
galectin 12 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,832,065...204,842,759
Ensembl chr 1:204,832,065...204,842,759
|
|
G |
Lrrc10b |
leucine rich repeat containing 10B |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,096,471...207,097,699
Ensembl chr 1:207,022,919...207,098,045
|
|
G |
Lrrn4cl |
LRRN4 C-terminal like |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,743,580...205,759,879
|
|
G |
Macrod1 |
mono-ADP ribosylhydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716
|
|
G |
Majin |
membrane anchored junction protein |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,487,777...203,524,098
Ensembl chr 1:203,488,069...203,524,092
|
|
G |
Map4k2 |
mitogen activated protein kinase kinase kinase kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,645,098...203,660,782
Ensembl chr 1:203,645,153...203,660,331
|
|
G |
Mark2 |
microtubule affinity regulating kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652
|
|
G |
Men1 |
menin 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
|
|
G |
Mir192 |
microRNA 192 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
|
|
G |
Mir194-2 |
microRNA 194-2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845
|
|
G |
Mpeg1 |
macrophage expressed 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,452,176...209,456,692
Ensembl chr 1:209,452,133...209,458,855
|
|
G |
Mrpl16 |
mitochondrial ribosomal protein L16 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,633,671...208,638,483
Ensembl chr 1:208,633,586...208,640,667
|
|
G |
Mrpl49 |
mitochondrial ribosomal protein L49 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049
|
|
G |
Ms4a1 |
membrane spanning 4-domains A1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
|
|
G |
Ms4a10 |
membrane spanning 4-domains A10 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,611,312...207,624,452
Ensembl chr 1:207,611,312...207,624,452
|
|
G |
Ms4a12 |
membrane spanning 4-domains A12 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,881,065...207,894,633
Ensembl chr 1:207,882,333...207,893,938
|
|
G |
Ms4a13 |
membrane spanning 4-domains A13 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,843,457...207,872,137
Ensembl chr 1:207,843,432...207,872,137
|
|
G |
Ms4a14 |
membrane spanning 4-domains A14 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,949,423...207,964,937
Ensembl chr 1:207,949,426...207,964,937
|
|
G |
Ms4a15 |
membrane spanning 4-domains A15 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,628,305...207,641,799
Ensembl chr 1:207,628,305...207,641,799
|
|
G |
Ms4a18 |
membrane spanning 4-domains A18 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,644,858...207,662,471
Ensembl chr 1:207,645,780...207,665,793
|
|
G |
Ms4a2 |
membrane spanning 4-domains A2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
|
|
G |
Ms4a3 |
membrane spanning 4-domains A3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,462,300...208,480,129
Ensembl chr 1:208,462,301...208,480,101
|
|
G |
Ms4a4a |
membrane spanning 4-domains A4A |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,060,507...208,085,121
Ensembl chr 1:208,046,971...208,085,119
|
|
G |
Ms4a5 |
membrane spanning 4-domains A5 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,927,057...207,934,886
Ensembl chr 1:207,927,052...207,934,836
|
|
G |
Ms4a6a |
membrane spanning 4-domains A6A |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,401,465...208,414,831
Ensembl chr 1:208,401,466...208,414,758
|
|
G |
Ms4a7 |
membrane spanning 4-domains A7 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,969,117...207,984,743
Ensembl chr 1:207,968,761...207,983,260
|
|
G |
Ms4a8 |
membrane spanning 4-domains A8 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,730,665...207,744,260
Ensembl chr 1:207,730,665...207,744,324
|
|
G |
Mta2 |
metastasis associated 1 family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,838,181...205,846,903
Ensembl chr 1:205,837,964...205,846,946
|
|
G |
Myrf |
myelin regulatory factor |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
|
|
G |
Naa40 |
N(alpha)-acetyltransferase 40, NatD catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,410,636...204,430,890
Ensembl chr 1:204,413,498...204,430,717
|
|
G |
Naaladl1 |
N-acetylated alpha-linked acidic dipeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195
|
|
G |
Nrxn2 |
neurexin 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297
|
|
G |
Nudt22 |
nudix hydrolase 22 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,182,797...204,186,421
Ensembl chr 1:204,182,802...204,186,280
|
|
G |
Nxf1 |
nuclear RNA export factor 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,655,442...205,668,637
Ensembl chr 1:205,655,375...205,668,636
|
|
G |
Oosp2 |
oocyte secreted protein 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,480,265...208,496,843
Ensembl chr 1:208,484,500...208,496,216
|
|
G |
Or10v1 |
olfactory receptor family 10 subfamily V member 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,807,725...208,808,654
Ensembl chr 1:208,792,327...208,812,306
|
|
G |
Or4d10 |
olfactory receptor family 4 subfamily D member 10 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,997,300...208,998,235
Ensembl chr 1:208,996,643...209,001,372
|
|
G |
Or4d10c |
olfactory receptor family 4 subfamily D member 10C |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,016,663...209,017,598
Ensembl chr 1:209,015,124...209,020,125
|
|
G |
Or4d11 |
olfactory receptor family 4 subfamily D member 11 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,967,493...208,968,425
Ensembl chr 1:208,963,281...208,972,531
|
|
G |
Or4d6 |
olfactory receptor family 4 subfamily D member 6 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,039,073...209,040,017
Ensembl chr 1:209,037,992...209,045,985
|
|
G |
Or5a1 |
olfactory receptor family 5 subfamily A member 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,050,800...209,051,753
Ensembl chr 1:209,048,306...209,056,709
|
|
G |
Or5a21 |
olfactory receptor family 5 subfamily A member 21 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,317,575...209,318,534
Ensembl chr 1:209,313,855...209,320,529
|
|
G |
Or5an1 |
olfactory receptor family 5 subfamily AN member 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,241,571...209,242,510
Ensembl chr 1:209,241,571...209,242,510
|
|
G |
Osbp |
oxysterol binding protein |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,888,697...208,918,511
Ensembl chr 1:208,887,895...208,918,506
|
|
G |
Otub1 |
OTU deubiquitinase, ubiquitin aldehyde binding 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,387,215...204,395,495
Ensembl chr 1:204,387,215...204,395,483
|
|
G |
Patl1 |
PAT1 homolog 1, processing body mRNA decay factor |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,831,115...208,862,904
Ensembl chr 1:208,831,115...208,862,857
|
|
G |
Pga3 |
pepsinogen A3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,317,021...207,327,156
Ensembl chr 1:207,317,021...207,327,156
|
|
G |
Plaat3 |
phospholipase A and acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,782,608...204,816,397
Ensembl chr 1:204,782,729...204,817,667
|
|
G |
Plaat5 |
phospholipase A and acyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,847,600...204,878,456
Ensembl chr 1:204,847,600...204,878,184
|
|
G |
Plcb3 |
phospholipase C beta 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
|
|
G |
Polr2g |
RNA polymerase II subunit G |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,689,160...205,692,537
Ensembl chr 1:205,689,160...205,692,686
|
|
G |
Ppp1r14b |
protein phosphatase 1, regulatory (inhibitor) subunit 14B |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,165,210...204,167,320
Ensembl chr 1:204,163,299...204,167,319
|
|
G |
Ppp2r5b |
protein phosphatase 2, regulatory subunit B', beta |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416
|
|
G |
Prdx5 |
peroxiredoxin 5 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
|
|
G |
Prpf19 |
pre-mRNA processing factor 19 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,541,582...207,552,664
Ensembl chr 1:207,541,595...207,552,662
|
|
G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
|
|
G |
Pygm |
glycogen phosphorylase, muscle associated |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
|
|
G |
Rab3il1 |
RAB3A interacting protein-like 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,646,168...206,682,718
Ensembl chr 1:206,646,155...206,679,972
|
|
G |
Rasgrp2 |
RAS guanyl releasing protein 2 |
|
ISS ISO |
OMIM:612840 ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
MouseDO ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993
|
|
G |
Rcor2 |
REST corepressor 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,453,403...204,461,403
Ensembl chr 1:204,454,360...204,460,838
|
|
G |
Rom1 |
retinal outer segment membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175
|
|
G |
Rps6ka4 |
ribosomal protein S6 kinase A4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,021,805...204,032,781
Ensembl chr 1:204,021,806...204,032,761
|
|
G |
Rtn3 |
reticulon 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,612,675...204,669,212
Ensembl chr 1:204,612,675...204,669,275
|
|
G |
Sac3d1 |
SAC3 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,414,184...203,416,563
Ensembl chr 1:203,414,187...203,416,604
|
|
G |
Saxo4 |
stabilizer of axonemal microtubules 4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,113,807...207,122,378
Ensembl chr 1:207,113,809...207,122,358
|
|
G |
Scgb1a1 |
secretoglobin family 1A member 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
|
|
G |
Scgb1d2 |
secretoglobin, family 1D, member 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,228,546...206,233,587
Ensembl chr 1:206,228,778...206,231,785
|
|
G |
Scgb1d4 |
secretoglobin family 1D member 4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,330,454...206,333,329
Ensembl chr 1:206,330,454...206,333,329
|
|
G |
Scgb2a1 |
secretoglobin, family 2A, member 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,497,848...206,501,211
Ensembl chr 1:206,497,849...206,501,211 Ensembl chr 1:206,497,849...206,501,211
|
|
G |
Sdhaf2 |
succinate dehydrogenase complex assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
|
|
G |
Sf1 |
splicing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330
|
|
G |
Slc15a3 |
solute carrier family 15 member 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,492,365...207,507,158
Ensembl chr 1:207,492,365...207,507,157
|
|
G |
Slc22a12 |
solute carrier family 22 member 12 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555
|
|
G |
Slc22a19 |
solute carrier family 22, member 19 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,910,450...204,965,538
Ensembl chr 1:204,910,455...204,965,538
|
|
G |
Slc22a22 |
solute carrier family 22 member 22 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:88,720,425...88,750,111
Ensembl chr 7:88,720,427...88,750,111
|
|
G |
Slc22a25 |
solute carrier family 22, member 25 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,338,698...205,498,486
Ensembl chr 1:205,338,699...205,433,085
|
|
G |
Slc22a6 |
solute carrier family 22 member 6 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173
|
|
G |
Slc22a8 |
solute carrier family 22 member 8 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,496,331...205,516,378
Ensembl chr 1:205,498,084...205,517,450
|
|
G |
Slc3a2 |
solute carrier family 3 member 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931
|
|
G |
Snord22 |
small nucleolar RNA, C/D box 22 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:9,097,799...9,097,923
Ensembl chr11:9,097,799...9,097,923
|
|
G |
Snord26 |
small nucleolar RNA, C/D box 26 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,619,818...205,619,892
Ensembl chr 1:205,619,818...205,619,892
|
|
G |
Snord27 |
small nucleolar RNA, C/D box 27 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,620,094...205,620,167
Ensembl chr 1:205,620,094...205,620,167
|
|
G |
Snord30 |
small nucleolar RNA, C/D box 30 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,621,234...205,621,302
Ensembl chr 1:205,621,234...205,621,302
|
|
G |
Snx15 |
sorting nexin 15 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247
|
|
G |
Spindoc |
spindlin interactor and repressor of chromatin binding |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,541,647...204,565,109
Ensembl chr 1:204,542,335...204,564,144
|
|
G |
Stip1 |
stress-induced phosphoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,209,433...204,228,452
Ensembl chr 1:204,178,932...204,228,476
|
|
G |
Stx3 |
syntaxin 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
|
|
G |
Stx5 |
syntaxin 5 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,637,401...205,653,563
Ensembl chr 1:205,637,413...205,653,563
|
|
G |
Syt7 |
synaptotagmin 7 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,031,359...207,093,787
Ensembl chr 1:207,031,592...207,089,026
|
|
G |
Syvn1 |
synoviolin 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,339,235...203,346,137
Ensembl chr 1:203,339,619...203,346,152
|
|
G |
Taf6l |
TATA-box binding protein associated factor 6 like |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,672,147...205,684,721
Ensembl chr 1:205,672,149...205,684,655
|
|
G |
Tkfc |
triokinase and FMN cyclase |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,238,230...207,253,035
Ensembl chr 1:207,236,557...207,252,737
|
|
G |
Tm7sf2 |
transmembrane 7 superfamily member 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
|
|
G |
Tmem109 |
transmembrane protein 109 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,519,628...207,530,245
Ensembl chr 1:207,519,624...207,530,215
|
|
G |
Tmem132a |
transmembrane protein 132A |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,507,074...207,518,756
Ensembl chr 1:207,507,077...207,518,758
|
|
G |
Tmem138 |
transmembrane protein 138 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,219,113...207,226,159
|
|
G |
Tmem179b |
transmembrane protein 179B |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,670,126...205,672,112
Ensembl chr 1:205,666,744...205,672,112
|
|
G |
Tmem216 |
transmembrane protein 216 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
|
|
G |
Tmem223 |
transmembrane protein 223 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,668,716...205,670,077
Ensembl chr 1:205,662,063...205,670,056
|
|
G |
Tmem258 |
transmembrane protein 258 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:206,849,723...206,853,623
|
|
G |
Trmt112 |
tRNA methyltransferase activator subunit 11-2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,103,298...204,104,151
|
|
G |
Trpt1 |
tRNA phosphotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,186,295...204,191,294
Ensembl chr 1:204,186,295...204,191,294
|
|
G |
Ttc9c |
tetratricopeptide repeat domain 9C |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,701,768...205,712,782
Ensembl chr 1:205,701,768...205,712,773
|
|
G |
Tut1 |
terminal uridylyl transferase 1, U6 snRNA-specific |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,848,691...205,859,767
Ensembl chr 1:205,848,772...205,859,764
|
|
G |
Ubxn1 |
UBX domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,765,309...205,769,234
Ensembl chr 1:205,745,120...205,816,520
|
|
G |
Uqcc3 |
ubiquinol-cytochrome c reductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,773,591...205,774,369
Ensembl chr 1:205,772,780...205,774,376
|
|
G |
Ust5r |
integral membrane transport protein UST5r |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,210,558...205,286,868
Ensembl chr 1:205,211,034...205,286,718
|
|
G |
Vegfb |
vascular endothelial growth factor B |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
|
|
G |
Vps37c |
VPS37C subunit of ESCRT-I |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,336,694...207,362,295
Ensembl chr 1:207,336,731...207,362,289
|
|
G |
Vps51 |
VPS51 subunit of GARP complex |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,360,434...203,370,422
Ensembl chr 1:203,360,440...203,370,430
|
|
G |
Vwce |
von Willebrand factor C and EGF domains |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,280,714...207,327,215
Ensembl chr 1:207,282,356...207,312,986
|
|
G |
Wdr74 |
WD repeat domain 74 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,631,769...205,636,558
Ensembl chr 1:205,631,824...205,636,563
|
|
G |
Zbtb3 |
zinc finger and BTB domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,693,906...205,703,277
Ensembl chr 1:205,686,620...205,704,515
|
|
G |
Zfpl1 |
zinc finger protein-like 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,374,500...203,378,518
Ensembl chr 1:203,374,504...203,378,487
|
|
G |
Zfta |
zinc finger translocation associated |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:204,604,557...204,612,688
Ensembl chr 1:204,604,103...204,612,688
|
|
G |
Znhit2 |
zinc finger, HIT-type containing 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,354,297...203,355,578
Ensembl chr 1:203,354,138...203,355,636
|
|
G |
Zp1 |
zona pellucida glycoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:207,560,881...207,567,261
Ensembl chr 1:207,560,881...207,567,261
|
|
|
G |
Ang |
angiogenin |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,312,711...24,323,361
|
|
G |
Apex1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785
|
|
G |
Arhgef40 |
Rho guanine nucleotide exchange factor 40 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510
|
|
G |
Chd8 |
chromodomain helicase DNA binding protein 8 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
|
|
G |
Eddm3b |
epididymal protein 3B |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,343,992...24,346,759
Ensembl chr15:24,345,573...24,346,025
|
|
G |
Hnrnpc |
heterogeneous nuclear ribonucleoprotein C |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
|
|
G |
LOC103693823 |
epididymal secretory protein E3-beta-like |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,385,585...24,386,643
Ensembl chr15:24,386,192...24,386,623
|
|
G |
Mettl17 |
methyltransferase like 17 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,582,296...24,589,029
Ensembl chr15:24,582,406...24,589,026
|
|
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 chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
|
|
G |
Ndrg2 |
NDRG family member 2 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626
|
|
G |
Or5au1 |
olfactory receptor family 5 subfamily AU member 1 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,736,872...24,742,314
Ensembl chr15:24,737,497...24,743,632
|
|
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 chr15:24,291,540...24,292,535
Ensembl chr15:24,291,243...24,295,559
|
|
G |
Osgep |
O-sialoglycoprotein endopeptidase |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
|
|
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 chr15:24,146,854...24,150,739
Ensembl chr15:24,146,856...24,150,702
|
|
G |
Pnp |
purine nucleoside phosphorylase |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1384322 PMID:1560016 PMID:3029074 PMID:5503492 PMID:8931706 PMID:9067751 PMID:9403342 PMID:9536098 PMID:9737781 PMID:11444966 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:32373116 PMID:32514656 PMID:32695102 PMID:33628209 PMID:35063692 More...
|
|
NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986
|
|
G |
Rab2b |
RAB2B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113
|
|
G |
Rnase1 |
ribonuclease A family member 1, pancreatic |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,361,924...24,363,633
Ensembl chr15:24,361,927...24,363,624
|
|
G |
Rnase10 |
ribonuclease A family member 10 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,226,687...24,229,149
Ensembl chr15:24,226,691...24,228,561
|
|
G |
Rnase11 |
ribonuclease A family member 11 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,268,206...24,270,192
Ensembl chr15:24,268,207...24,270,192
|
|
G |
Rnase12 |
ribonuclease A family member 12 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,275,767...24,286,843
Ensembl chr15:24,275,774...24,276,702
|
|
G |
Rnase13 |
ribonuclease A family member 13 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,618,209...24,618,670
Ensembl chr15:24,618,209...24,618,670
|
|
G |
Rnase2 |
ribonuclease A family member 2 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,449,618...24,450,427
Ensembl chr15:24,449,611...24,450,479
|
|
G |
Rnase3 |
ribonuclease A family member 3 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
|
|
G |
Rnase4 |
ribonuclease A family member 4 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117
|
|
G |
Rnase6 |
ribonuclease A family member 6 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,354,305...24,357,289
Ensembl chr15:24,354,303...24,357,328
|
|
G |
Rnase9 |
ribonuclease A family member 9 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,259,525...24,263,079
Ensembl chr15:24,259,525...24,263,079
|
|
G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
|
|
G |
Sall2 |
spalt-like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918
|
|
G |
Slc39a2 |
solute carrier family 39 member 2 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,590,738...24,592,850
Ensembl chr15:24,590,738...24,592,850
|
|
G |
Supt16h |
SPT16 homolog, facilitates chromatin remodeling subunit |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
|
|
G |
Tmem253 |
transmembrane protein 253 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,706,517...24,709,107
Ensembl chr15:24,706,529...24,708,625
|
|
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 chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833
|
|
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 chr15:24,614,284...24,627,123
Ensembl chr15:24,614,006...24,618,967
|
|
G |
Zfp219 |
zinc finger protein 219 |
|
ISO |
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency |
ClinVar |
PMID:24767876 PMID:28492532 |
|
NCBI chr15:24,695,831...24,710,039
Ensembl chr15:24,695,837...24,710,030
|
|
|
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:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
|
|
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:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
|
|
G |
Cox7b |
cytochrome c oxidase subunit 7B |
|
ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:24550228 PMID:28492532 |
|
NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732
|
|
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:25640679 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:71,038,489...71,079,704
Ensembl chr X:71,038,489...71,079,699
|
|
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:71,271,454...71,287,429
Ensembl chr X:71,271,440...71,287,418
|
|