RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: blood protein disease
Accession: DOID:620
browse the term
Definition: Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS.
Synonyms: exact_synonym: blood protein disorder; blood protein disorders
primary_id: MESH:D001796
For additional species annotation, visit the
Alliance of Genome Resources .
G
Alb
albumin
ISO
DNA:missense mutation:cds:p.D293G,K198I(human)
RGD
PMID:20603593
RGD:11035265
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
G
Serpine1
serpin family E member 1
IEP
associated with Sepsis;protein:increased activity:lung (rat)
RGD
PMID:18182560
RGD:11080962
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with sickle cell anemia;
RGD
PMID:23590899
RGD:10450838
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:deletion:: (human)
RGD
PMID:23590899
RGD:10450838
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Hbb
hemoglobin subunit beta
ISO
DNA:SNPs, haplotypes
RGD
PMID:23952145
RGD:10449047
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
G
Hmox1
heme oxygenase 1
ISO
associated with Anemia, Sickle Cell;DNA:repeat:promoter
RGD
PMID:22966170
RGD:10755560
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Nos3
nitric oxide synthase 3
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:repeats:intron: associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
RGD
PMID:25263931 PMID:14687036
RGD:11533931 , RGD:11533934
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Vegfa
vascular endothelial growth factor A
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human) associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
RGD
PMID:25130874 PMID:22925497
RGD:11075233 , RGD:11075235
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Acot8
acyl-CoA thioesterase 8
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,531,192...153,542,851
Ensembl chr 3:153,531,193...153,542,851
G
Ada
adenosine deaminase
ISO ISS
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency OMIM:102700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
OMIM ClinVar MouseDO CTD
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1401934 PMID:1680289 PMID:1696926 PMID:1925539 PMID:1974554 PMID:2166947 PMID:2651461 PMID:2758612 PMID:2773932 PMID:2783588 PMID:3007108 PMID:3182793 PMID:3366897 PMID:3475710 PMID:3684597 PMID:3839802 PMID:6208479 PMID:7554472 PMID:7599635 PMID:7691348 PMID:8023852 PMID:8031011 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8433873 PMID:8589684 PMID:8614422 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9536098 PMID:9616253 PMID:9758612 PMID:9806422 PMID:10200056 PMID:11067872 PMID:11157502 PMID:11160213 PMID:11313286 PMID:11354825 PMID:11807006 PMID:14499267 PMID:16199547 PMID:16276484 PMID:16825284 PMID:17001642 PMID:17181544 PMID:17185467 PMID:17576681 PMID:18952502 PMID:19179314 PMID:19665771 PMID:19830125 PMID:20039061 PMID:20544538 PMID:21228398 PMID:21410451 PMID:21624848 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23260757 PMID:23348723 PMID:24033266 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25875700 PMID:25954555 PMID:26255240 PMID:26376800 PMID:26467025 PMID:27095930 PMID:27129325 PMID:27484032 PMID:27872624 PMID:28266921 PMID:28346229 PMID:28492532 PMID:28747913 PMID:29744787 PMID:30290665 PMID:30778343 PMID:30858051 PMID:31031743 PMID:31319225 PMID:31589898 PMID:31681265 PMID:31781678 PMID:31858364 PMID:32135276 PMID:32245326 PMID:32307643 PMID:32445296 PMID:32888943 PMID:33628209 PMID:33975924 PMID:34502390 PMID:34975878 PMID:35729272 PMID:36685585 More...
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Ccn5
cellular communication network factor 5
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,491,247...152,502,639
Ensembl chr 3:152,491,220...152,502,636
G
Cd247
Cd247 molecule
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 PMID:31681265 More...
NCBI chr13:78,043,302...78,118,437
Ensembl chr13:78,043,307...78,122,263
G
Cd3g
CD3 gamma subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117
NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
G
Cd40
CD40 molecule
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cdh22
cadherin 22
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,845,563...153,970,630
Ensembl chr 3:153,845,787...153,970,588
G
Ctsa
cathepsin A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215
G
Dbndd2
dysbindin domain containing 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,216,300...153,220,651
Ensembl chr 3:153,191,090...153,220,651
G
Dnttip1
deoxynucleotidyltransferase, terminal, interacting protein 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,481,718...153,505,403
Ensembl chr 3:153,481,705...153,505,759
G
Elmo2
engulfment and cell motility 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,023,661...154,061,259
Ensembl chr 3:154,023,661...154,061,185
G
Eppin
epididymal peptidase inhibitor
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,312,396...153,319,310
Ensembl chr 3:153,312,396...153,319,310
G
Fitm2
fat storage-inducing transmembrane protein 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858
G
Gdap1l1
ganglioside-induced differentiation-associated protein 1-like 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,110,225...152,129,693
Ensembl chr 3:152,110,253...152,128,711
G
Gtsf1l
gametocyte specific factor 1-like
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:151,736,020...151,738,715
Ensembl chr 3:151,735,997...151,736,863
G
Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
G
Ift52
intraflagellar transport 52
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980
G
Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency
ClinVar
PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:14615376 PMID:17433830 PMID:17644747 PMID:19203666 PMID:21184155 PMID:23384681 PMID:25146434 PMID:25741868 PMID:28492532 PMID:30697212 PMID:30778343 PMID:32754152 PMID:33365035 PMID:34173127 PMID:35482138 More...
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
G
Jph2
junctophilin 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
G
Kcnk15
potassium two pore domain channel subfamily K member 15
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,515,237...152,521,455
Ensembl chr 3:152,515,237...152,521,455
G
Kcns1
potassium voltage-gated channel, modifier subfamily S, member 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,835,642...152,843,032
Ensembl chr 3:152,835,644...152,842,960
G
Matn4
matrilin 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865
G
Mmp9
matrix metallopeptidase 9
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mybl2
MYB proto-oncogene like 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708
G
Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Bubble boy disease
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
Ncoa5
nuclear receptor coactivator 5
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,736,420...153,769,838
Ensembl chr 3:153,736,420...153,769,553
G
Neurl2
neuralized E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,566,659...153,569,380
Ensembl chr 3:153,566,660...153,569,380
G
Ocstamp
osteoclast stimulatory transmembrane protein
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,131,113...154,141,611
Ensembl chr 3:154,132,328...154,136,991
G
Oser1
oxidative stress responsive serine-rich 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,066,975...152,085,180
Ensembl chr 3:152,066,975...152,085,149
G
Pabpc1l
poly(A) binding protein, cytoplasmic 1-like
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,692,825...152,725,997
Ensembl chr 3:152,693,700...152,725,997
G
Pcif1
phosphorylated CTD interacting factor 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,614,147...153,627,079
Ensembl chr 3:153,614,147...153,627,079
G
Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
G
Pkig
cAMP-dependent protein kinase inhibitor gamma
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,330,477...152,398,085
Ensembl chr 3:152,366,041...152,398,082
G
Pltp
phospholipid transfer protein
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
G
R3hdml
R3H domain containing-like
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,171,382...152,182,151
Ensembl chr 3:152,171,382...152,182,151
G
Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Bubble boy disease ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18463379 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19458910 PMID:19912631 PMID:20956421 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25516070 PMID:25741868 PMID:25869295 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27484032 PMID:27609655 PMID:28492532 PMID:28747913 PMID:28769923 PMID:28783691 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30877075 PMID:31632441 PMID:32373116 PMID:32445296 PMID:32655540 PMID:32888943 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 PMID:35503492 PMID:37724703 More...
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
G
Rbpjl
recombination signal binding protein for immunoglobulin kappa J region-like
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,134,044...153,147,421
Ensembl chr 3:153,134,140...153,146,513
G
Rims4
regulating synaptic membrane exocytosis 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,520,982...152,585,070
Ensembl chr 3:152,524,095...152,584,780
G
Sdc4
syndecan 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580
G
Semg1
semenogelin 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,910,033...152,912,882
Ensembl chr 3:152,910,034...152,912,882
G
Serinc3
serine incorporator 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,301,882...152,321,327
Ensembl chr 3:152,301,772...152,321,808
G
Slc12a5
solute carrier family 12 member 5
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,696,517...153,735,801
Ensembl chr 3:153,696,517...153,735,765
G
Slc13a3
solute carrier family 13 member 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,141,878...154,204,604
Ensembl chr 3:154,141,872...154,204,606
G
Slc2a10
solute carrier family 2 member 10
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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Slc35c2
solute carrier family 35 member C2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,012,262...154,023,549
Ensembl chr 3:154,012,416...154,023,488
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Slpi
secretory leukocyte peptidase inhibitor
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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Snx21
sorting nexin family member 21
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,522,474...153,532,235
Ensembl chr 3:153,522,486...153,532,221
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Spata25
spermatogenesis associated 25
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,562,479...153,566,508
Ensembl chr 3:153,562,528...153,564,480
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Spint3
serine peptidase inhibitor, Kunitz type, 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,293,969...153,296,717
Ensembl chr 3:153,294,010...153,296,779
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Spint4
serine peptidase inhibitor, Kunitz type 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,430,633...153,432,821
Ensembl chr 3:153,430,633...153,433,439
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Stk4
serine/threonine kinase 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,745,958...152,827,747
Ensembl chr 3:152,745,681...152,827,744
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Sys1
Sys1 golgi trafficking protein
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,191,061...153,195,463
Ensembl chr 3:153,191,090...153,220,651
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Tnnc2
troponin C2, fast skeletal type
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,513,272...153,516,033
Ensembl chr 3:153,513,271...153,516,029
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Tomm34
translocase of outer mitochondrial membrane 34
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,729,345...152,746,295
Ensembl chr 3:152,729,349...152,746,373
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Tox2
TOX high mobility group box family member 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:151,853,294...151,980,086
Ensembl chr 3:151,853,294...151,980,749
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Tp53rka
Tp53 tumor protein p53 regulating kinase A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328
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Tp53tg5
TP53 target 5
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,200,792...153,204,337
Ensembl chr 3:153,200,789...153,204,349
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Ttpal
alpha tocopherol transfer protein like
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,278,246...152,296,550
Ensembl chr 3:152,278,303...152,296,513
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Ube2c
ubiquitin-conjugating enzyme E2C
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,506,636...153,509,036
Ensembl chr 3:153,506,636...153,513,339
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Wfdc10a
WAP four-disulfide core domain 10A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,390,067...153,391,420
Ensembl chr 3:153,390,067...153,391,420
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Wfdc11
WAP four-disulfide core domain 11
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,397,585...153,406,407
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Wfdc12
WAP four-disulfide core domain 12
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,861,461...152,862,784
Ensembl chr 3:152,862,341...152,862,690
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Wfdc13
WAP four-disulfide core domain 13
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,419,553...153,421,306
Ensembl chr 3:153,419,648...153,421,221
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Wfdc2
WAP four-disulfide core domain 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807
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Wfdc3
WAP four-disulfide core domain 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,464,862...153,478,952
Ensembl chr 3:153,464,862...153,478,952
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Wfdc5
WAP four-disulfide core domain 5
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,849,025...152,854,868
Ensembl chr 3:152,849,025...152,854,904
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Wfdc6a
WAP four-disulfide core domain 6A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,305,336...153,309,144
Ensembl chr 3:153,305,336...153,309,144
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Wfdc8
WAP four-disulfide core domain 8
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,323,503...153,339,849
Ensembl chr 3:153,324,413...153,339,842
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Wfdc9
WAP four-disulfide core domain 9
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,380,554...153,389,055
Ensembl chr 3:153,380,649...153,391,261
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Ywhab
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,659,663...152,682,105
Ensembl chr 3:152,659,651...152,682,105
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Zfp334
zinc finger protein 334
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,112,537...154,125,087
Ensembl chr 3:154,113,561...154,125,057
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Zfp335
zinc finger protein 335
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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Zswim1
zinc finger, SWIM-type containing 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,559,104...153,562,821
Ensembl chr 3:153,558,970...153,562,915
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Zswim3
zinc finger, SWIM-type containing 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,542,741...153,558,022
Ensembl chr 3:153,542,743...153,558,018
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Blnk
B-cell linker
susceptibility
ISO
DNA:splice-site mutation CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10583958
RGD:1600518
NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
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Btk
Bruton tyrosine kinase
susceptibility
ISO
DNA:insertions, point mutations ClinVar Annotator: match by term: Agammaglobulinemia CTD Direct Evidence: therapeutic
ClinVar CTD RGD
PMID:10352268 PMID:15142874 PMID:8162018
RGD:1600526
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cd19
CD19 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16672701
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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Cd79a
CD79a molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Cd79b
CD79b molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Lrrc8a
leucine rich repeat containing 8 VRAC subunit A
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14660746
RGD:1599837
NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1
ClinVar
PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162056 PMID:8380905 PMID:8594569 PMID:8695804 PMID:8939985 PMID:9143921 PMID:9188445 PMID:9445504 PMID:9524120 PMID:9545398 PMID:9880544 PMID:10092645 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11668622 PMID:11742281 PMID:12217331 PMID:14974089 PMID:15661032 PMID:16862044 PMID:16951917 PMID:17327079 PMID:17765309 PMID:18518992 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:23424595 PMID:25741868 PMID:27512878 PMID:27980540 PMID:28492532 PMID:29424453 PMID:29503650 PMID:30072168 PMID:30564228 More...
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Spi1
Spi-1 proto-oncogene
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant
OMIM ClinVar
PMID:25741868 PMID:33951726
NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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C20h22orf15
similar to human chromosome 22 open reading frame 15
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,723,160...12,725,864
Ensembl chr20:12,723,160...12,726,059
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Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
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Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Mif
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Vpreb3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,717,421...12,718,785
Ensembl chr20:12,716,779...12,719,520
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Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 PMID:24481606 PMID:24728327 PMID:25741868 PMID:28492532 PMID:33046446 PMID:34060650 More...
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Rps19
ribosomal protein S19
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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Aldh18a1
aldehyde dehydrogenase 18 family, member A1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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Blnk
B-cell linker
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24582315 PMID:25741868 PMID:28492532 PMID:30619340 More...
NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
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Cc2d2b
coiled-coil and C2 domain containing 2B
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,561,506...239,655,771
Ensembl chr 1:239,561,987...239,682,416
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Ccnj
cyclin J
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,659,588...239,677,367
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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Tctn3
tectonic family member 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
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Zfp518a
zinc finger protein 518A
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:25741868 PMID:28492532 More...
NCBI chr 1:239,719,305...239,744,978
Ensembl chr 1:239,719,505...239,744,979
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Lrrc8a
leucine rich repeat containing 8 VRAC subunit A
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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Cd79b
CD79b molecule
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive
OMIM ClinVar
PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25488983 PMID:25741868 PMID:25939554 PMID:27076228 PMID:27116393 PMID:27693481 PMID:28302518 PMID:28492532 PMID:29178053 PMID:34922003 More...
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: TCF3-related condition
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34618307
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 PMID:28492532 PMID:33905048 PMID:34618307 More...
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Slc39a7
solute carrier family 39 member 7
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30718914
NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537
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Alb
albumin
ISO
ClinVar Annotator: match by term: Analbuminemia | ClinVar Annotator: match by term: Analbuminemia Baghdad
OMIM ClinVar
PMID:3353369 PMID:7937781 PMID:8134387 PMID:9266687 PMID:11781148 PMID:12028999 PMID:15300429 PMID:15996651 PMID:16183048 PMID:17952464 PMID:18459107 PMID:18602380 PMID:18791744 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29981851 More...
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Atp7b
ATPase copper transporting beta
ISO
ClinVar Annotator: match by term: Anhaptoglobinemia
ClinVar
PMID:25741868
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Hp
haptoglobin
ISO
ClinVar Annotator: match by term: AHAPTOGLOBINEMIA | ClinVar Annotator: match by term: Anhaptoglobinemia
OMIM ClinVar
PMID:9463309 PMID:10644822 PMID:10666182 PMID:14616769 PMID:14999562 PMID:25741868 More...
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Ankrd45
ankyrin repeat domain 45
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:73,424,766...73,450,466
Ensembl chr13:73,424,480...73,450,466
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Cacybp
calcyclin binding protein
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177
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Cenpl
centromere protein L
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114
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Cop1
COP1, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:71,467,164...71,561,826
Ensembl chr13:71,429,961...71,538,890
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Dars2
aspartyl-tRNA synthetase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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Gas5
growth arrest specific 5
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:73,303,611...73,306,932
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Gpr52
G protein-coupled receptor 52
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:72,800,265...72,804,989
Ensembl chr13:72,800,127...72,806,180
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Kiaa0040
KIAA0040 ortholog
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:72,274,519...72,312,103
Ensembl chr13:72,274,552...72,312,103
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Klhl20
kelch-like family member 20
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:73,363,451...73,408,293
Ensembl chr13:73,363,455...73,408,337
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Mrps14
mitochondrial ribosomal protein S14
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915
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Prdx6
peroxiredoxin 6
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
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Rabgap1l
RAB GTPase activating protein 1-like
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984
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Rc3h1
ring finger and CCCH-type domains 1
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
PMID:3663935 PMID:10823268 PMID:16956830 PMID:21264449 PMID:24889358 PMID:28492532 PMID:29153735 More...
NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
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Scarna3
small Cajal body-specific RNA 3
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr 6:99,222,432...99,222,521
Ensembl chr 6:99,222,432...99,222,521
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Serpinc1
serpin family C member 1
susceptibility
ISO ISS
ClinVar Annotator: match by term: Hereditary antithrombin deficiency | ClinVar Annotator: match by term: Reduced antithrombin III activity OMIM:613118 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:1325679 PMID:1360174 PMID:1421387 PMID:1469094 PMID:1483705 PMID:1483709 PMID:1536946 PMID:1551681 PMID:1555650 PMID:1796410 PMID:1868237 PMID:1873224 PMID:1906811 PMID:1932746 PMID:1977621 PMID:1998601 PMID:2012760 PMID:2093312 PMID:2229057 PMID:2336381 PMID:2349545 PMID:2363123 PMID:2365065 PMID:2372510 PMID:2602168 PMID:2615648 PMID:2776881 PMID:2794060 PMID:2917133 PMID:2983542 PMID:3055413 PMID:3080419 PMID:3141397 PMID:3162733 PMID:3169232 PMID:3179438 PMID:3179448 PMID:3187951 PMID:3191114 PMID:3238650 PMID:3350974 PMID:3360140 PMID:3413737 PMID:3472589 PMID:3512602 PMID:3563966 PMID:3563974 PMID:3567355 PMID:3580302 PMID:3605071 PMID:3663508 PMID:3663935 PMID:3715788 PMID:3775688 PMID:3805013 PMID:3828226 PMID:3960724 PMID:4049307 PMID:4082101 PMID:6204398 PMID:6435583 PMID:6572945 PMID:6582486 PMID:6636045 PMID:6871107 PMID:6871478 PMID:7082587 PMID:7455996 PMID:7734360 PMID:7863481 PMID:7947234 PMID:7949130 PMID:7981186 PMID:7989582 PMID:8217824 PMID:8274732 PMID:8443391 PMID:8476848 PMID:9031473 PMID:9157604 PMID:9536098 PMID:9845533 PMID:10077734 PMID:10361121 PMID:10823268 PMID:10997988 PMID:11192751 PMID:11307839 PMID:11686319 PMID:11713457 PMID:12399451 PMID:12591924 PMID:12755798 PMID:14347873 PMID:14754620 PMID:15164384 PMID:16199547 PMID:16268490 PMID:16620552 PMID:16705712 PMID:16956830 PMID:17492649 PMID:17576681 PMID:17849067 PMID:18480576 PMID:18954896 PMID:20088933 PMID:21264449 PMID:21325262 PMID:22234719 PMID:22398878 PMID:22481271 PMID:22498748 PMID:22627591 PMID:23358206 PMID:23910795 PMID:23932013 PMID:24072242 PMID:24082793 PMID:24121110 PMID:24158114 PMID:24162787 PMID:24196373 PMID:24583439 PMID:24684277 PMID:24814625 PMID:24889358 PMID:24956267 PMID:25298121 PMID:25312341 PMID:25466846 PMID:25522812 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25837307 PMID:26748602 PMID:27003919 PMID:27098529 PMID:27283015 PMID:27322195 PMID:27749296 PMID:27838551 PMID:28166811 PMID:28174134 PMID:28229161 PMID:28300866 PMID:28317092 PMID:28492532 PMID:28607330 PMID:28743742 PMID:29071478 PMID:29153735 PMID:29215785 PMID:29296762 PMID:29662868 PMID:29708875 PMID:29902631 PMID:30046692 PMID:30721820 PMID:30975910 PMID:31030036 PMID:31064749 PMID:31157679 PMID:31885188 PMID:33367661 PMID:33401890 PMID:33614741 PMID:33725558 PMID:33917853 PMID:34355501 PMID:34800304 PMID:35218943 PMID:35486842 PMID:35626216 PMID:3162535 More...
RGD:1599321
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Slc9c2
solute carrier family 9, member C2 (putative)
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:73,424,683...73,524,244
Ensembl chr13:73,451,115...73,524,239 Ensembl chr13:73,451,115...73,524,239
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Tex50
testis expressed 50
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:73,433,375...73,438,787
Ensembl chr13:73,433,384...73,438,792
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Tnfsf18
TNF superfamily member 18
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169
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Tnfsf4
TNF superfamily member 4
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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Tnn
tenascin N
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:72,319,160...72,386,362
Ensembl chr13:72,319,155...72,408,156
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Tnr
tenascin R
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641
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Zbtb37
zinc finger and BTB domain containing 37
ISO
ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar
NCBI chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124
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Aptx
aprataxin
susceptibility
ISO
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: DNA:missense mutation:cds:p.V320G(human) DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
OMIM ClinVar CTD RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 PMID:12629250 PMID:14506070 PMID:15164193 PMID:15276230 PMID:15365154 PMID:15596775 PMID:15699391 PMID:15719174 PMID:15790557 PMID:15852392 PMID:15876520 PMID:15996403 PMID:16400613 PMID:16700949 PMID:17049295 PMID:17242337 PMID:18004640 PMID:18403580 PMID:21228398 PMID:21465257 PMID:21486904 PMID:21984210 PMID:23183622 PMID:23659632 PMID:24033266 PMID:24362567 PMID:25637650 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 PMID:28516743 PMID:28652255 PMID:28881617 PMID:29356829 PMID:29482223 PMID:29934293 PMID:30609409 PMID:31493945 PMID:32214227 PMID:32606550 PMID:32750061 PMID:33624863 PMID:21465257 PMID:17572444 PMID:12196655 More...
RGD:10054301 , RGD:10054300 , RGD:1599207
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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Pnkp
polynucleotide kinase 3'-phosphatase
ISO
ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia
ClinVar
PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 PMID:31041400 PMID:31167812 PMID:32504494 PMID:35426160 More...
NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ClinVar
PMID:32488064
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Prkcd
protein kinase C, delta
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III
OMIM ClinVar
PMID:9536098 PMID:11976687 PMID:16199547 PMID:17576681 PMID:23319571 PMID:23430113 PMID:23666743 PMID:24033266 PMID:25741868 PMID:26546672 PMID:28492532 PMID:30257684 PMID:34264265 More...
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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Rft1
RFT1 homolog
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III
ClinVar
PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532
NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
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Ammecr1l
AMMECR1 like
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr18:23,386,114...23,411,177
Ensembl chr18:23,386,903...23,410,920
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Bin1
bridging integrator 1
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263
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Ercc3
ERCC excision repair 3, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
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Gpr17
G protein-coupled receptor 17
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966
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Hs6st1
heparan sulfate 6-O-sulfotransferase 1
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683
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Iws1
interacts with SUPT6H, CTD assembly factor 1
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr18:23,695,496...23,737,363
Ensembl chr18:23,695,425...23,736,172
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Lims2
LIM zinc finger domain containing 2
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr18:23,553,937...23,592,137
Ensembl chr18:23,553,937...23,592,137
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Map3k2
mitogen activated protein kinase kinase kinase 2
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr18:23,807,218...23,879,722
Ensembl chr18:23,807,218...23,871,433
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Myo7b
myosin VIIb
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr18:23,588,307...23,669,841
Ensembl chr18:23,588,307...23,669,809
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Polr2d
RNA polymerase II subunit D
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr18:23,418,097...23,425,228
Ensembl chr18:23,418,097...23,425,228
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital protein C deficiency | ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
OMIM ClinVar
PMID:1301954 PMID:1301959 PMID:1347608 PMID:1464619 PMID:1469096 PMID:1498334 PMID:1511988 PMID:1511989 PMID:1593215 PMID:1678832 PMID:1771629 PMID:1868249 PMID:2437584 PMID:2602169 PMID:2783855 PMID:2991887 PMID:3185623 PMID:6589623 PMID:7482420 PMID:7605880 PMID:7670104 PMID:7740502 PMID:7792728 PMID:7795150 PMID:7831652 PMID:7841324 PMID:7865674 PMID:7881411 PMID:7894031 PMID:7913773 PMID:7951255 PMID:8093743 PMID:8128429 PMID:8165644 PMID:8218861 PMID:8292730 PMID:8324221 PMID:8400292 PMID:8446940 PMID:8462980 PMID:8477066 PMID:8499565 PMID:8499568 PMID:8505327 PMID:8639775 PMID:8704244 PMID:8807339 PMID:8845458 PMID:8883262 PMID:8972002 PMID:9536098 PMID:9553065 PMID:9683579 PMID:9798967 PMID:9840027 PMID:10669160 PMID:10805275 PMID:10942114 PMID:11019966 PMID:11053623 PMID:11336399 PMID:11380450 PMID:14642106 PMID:16199547 PMID:16867987 PMID:17152060 PMID:17576681 PMID:17635713 PMID:17649706 PMID:18573519 PMID:18954896 PMID:19535131 PMID:20815936 PMID:21045961 PMID:21621249 PMID:21744130 PMID:21901152 PMID:22353194 PMID:22425321 PMID:22545135 PMID:22576310 PMID:22627591 PMID:22817391 PMID:22944127 PMID:23174622 PMID:23332921 PMID:23389250 PMID:24028705 PMID:24103874 PMID:24122877 PMID:24162787 PMID:24300144 PMID:24509341 PMID:24782131 PMID:24911457 PMID:25039884 PMID:25393254 PMID:25525159 PMID:25533856 PMID:25637381 PMID:25648792 PMID:25712501 PMID:25741868 PMID:25748729 PMID:26250584 PMID:27081530 PMID:27172833 PMID:27517348 PMID:27838551 PMID:27995882 PMID:28111891 PMID:28174134 PMID:28468828 PMID:28492532 PMID:28607330 PMID:29356699 PMID:29536478 PMID:30439769 PMID:30632992 PMID:31064749 PMID:31254973 PMID:31295762 PMID:31521534 PMID:31592240 PMID:31680443 PMID:31821907 PMID:31980526 PMID:32309994 PMID:32717757 PMID:34355501 PMID:34650936 PMID:35026611 PMID:35112923 More...
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Sap130
Sin3A associated protein 130
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr18:23,244,337...23,345,368
Ensembl chr18:23,267,256...23,345,359
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Sft2d3
SFT2 domain containing 3
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr18:23,537,105...23,539,305
Ensembl chr18:23,537,105...23,539,305
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Uggt1
UDP-glucose glycoprotein glucosyltransferase 1
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr 9:38,355,229...38,468,473
Ensembl chr 9:38,359,089...38,468,467
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Wdr33
WD repeat domain 33
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
PMID:3185623 PMID:17152060 PMID:28492532
NCBI chr18:23,432,233...23,535,460
Ensembl chr18:23,432,191...23,468,597
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Pros1
protein S
ISO
ClinVar Annotator: match by term: PROS1-related condition | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 PMID:7579449 PMID:7803790 PMID:8113388 PMID:8298131 PMID:8765219 PMID:8781426 PMID:8943854 PMID:9241758 PMID:9536098 PMID:9651142 PMID:9657428 PMID:10447256 PMID:10456456 PMID:10669162 PMID:10706858 PMID:10790208 PMID:10811787 PMID:10887114 PMID:11127877 PMID:11858485 PMID:12351389 PMID:12960605 PMID:15147381 PMID:15175796 PMID:15238143 PMID:15712227 PMID:15978566 PMID:16100035 PMID:16199547 PMID:16461766 PMID:16953283 PMID:16961607 PMID:16961608 PMID:17157360 PMID:17576681 PMID:18322254 PMID:18435454 PMID:18841302 PMID:18954896 PMID:19826897 PMID:20811787 PMID:20880255 PMID:21172841 PMID:21285903 PMID:21486865 PMID:21764424 PMID:21764702 PMID:21811774 PMID:22166512 PMID:22261441 PMID:22273984 PMID:22627591 PMID:23813890 PMID:24014240 PMID:24033266 PMID:24055113 PMID:24119292 PMID:24162787 PMID:24233386 PMID:24365770 PMID:25272994 PMID:25637381 PMID:25741868 PMID:26046366 PMID:26251307 PMID:26466767 PMID:26985940 PMID:27652279 PMID:27660039 PMID:27667277 PMID:27748013 PMID:27838551 PMID:28374852 PMID:28492532 PMID:28607330 PMID:29225857 PMID:29321366 PMID:29748776 PMID:29883906 PMID:30349894 PMID:30543986 PMID:30669159 PMID:31064749 PMID:32964666 PMID:34355501 More...
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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Tnfrsf11a
TNF receptor superfamily member 11A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
OMIM CTD ClinVar
PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive
OMIM ClinVar
PMID:1301954 PMID:1301959 PMID:1347608 PMID:1347706 PMID:1348046 PMID:1464619 PMID:1498334 PMID:1511988 PMID:1511989 PMID:1593215 PMID:1678832 PMID:1771629 PMID:1868249 PMID:2602169 PMID:3185623 PMID:7482420 PMID:7605880 PMID:7670104 PMID:7740502 PMID:7792728 PMID:7795150 PMID:7865674 PMID:7894031 PMID:8128429 PMID:8165644 PMID:8324221 PMID:8446940 PMID:8477066 PMID:8499565 PMID:8499568 PMID:8505327 PMID:8807339 PMID:8845458 PMID:8883262 PMID:9798967 PMID:10669160 PMID:10805275 PMID:10942114 PMID:11336399 PMID:14642106 PMID:17152060 PMID:17649706 PMID:18573519 PMID:18954896 PMID:19535131 PMID:20815936 PMID:21621249 PMID:21744130 PMID:21901152 PMID:22627591 PMID:23174622 PMID:24028705 PMID:24103874 PMID:24162787 PMID:24782131 PMID:24796542 PMID:24911457 PMID:25393254 PMID:25525159 PMID:25533856 PMID:25637381 PMID:25648792 PMID:25741868 PMID:25748729 PMID:27172833 PMID:27517348 PMID:28111891 PMID:28492532 PMID:28607330 PMID:31064749 PMID:31254973 PMID:31821907 PMID:31980526 PMID:32717757 PMID:34355501 PMID:35112923 More...
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Arl13b
ADP-ribosylation factor like GTPase 13B
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive
ClinVar
PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532
NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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Nsun3
NOP2/Sun RNA methyltransferase 3
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive
ClinVar
PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532
NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543
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Pros1
protein S
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2521801 PMID:2526663 PMID:7545463 PMID:7579448 PMID:7579449 PMID:7803790 PMID:7974339 PMID:8298131 PMID:8616098 PMID:8639833 PMID:8765219 PMID:8781426 PMID:8841302 PMID:8943854 PMID:9031442 PMID:9031443 PMID:9241758 PMID:9536098 PMID:9651142 PMID:10063989 PMID:10447256 PMID:10456456 PMID:10613646 PMID:10613647 PMID:10669162 PMID:10706858 PMID:10790208 PMID:10811787 PMID:10887114 PMID:11127877 PMID:11776305 PMID:11858485 PMID:12351389 PMID:12960605 PMID:15147381 PMID:15175796 PMID:15238143 PMID:15712227 PMID:15712777 PMID:15978566 PMID:16100035 PMID:16199547 PMID:16363235 PMID:16461766 PMID:16953283 PMID:16961607 PMID:16961608 PMID:17157360 PMID:17576681 PMID:18242167 PMID:18322254 PMID:18435454 PMID:18841302 PMID:18954896 PMID:19826897 PMID:20181378 PMID:20421270 PMID:20484936 PMID:20811787 PMID:20880255 PMID:21172841 PMID:21285903 PMID:21486865 PMID:21764424 PMID:21764702 PMID:21811774 PMID:22166512 PMID:22261441 PMID:22273984 PMID:22290026 PMID:22627591 PMID:22627709 PMID:22951146 PMID:23813890 PMID:24014240 PMID:24033266 PMID:24055113 PMID:24119292 PMID:24162787 PMID:24233386 PMID:24365770 PMID:25272994 PMID:25637381 PMID:25640679 PMID:25741868 PMID:26046366 PMID:26251307 PMID:26466767 PMID:26985940 PMID:27652279 PMID:27660039 PMID:27667277 PMID:27748013 PMID:27838551 PMID:28088608 PMID:28174134 PMID:28374852 PMID:28492532 PMID:28607330 PMID:29225857 PMID:29321366 PMID:29748776 PMID:29883906 PMID:30349894 PMID:30543986 PMID:30669159 PMID:31064749 PMID:31068512 PMID:31422373 PMID:32964666 PMID:34355501 PMID:34533296 PMID:34729451 More...
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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Stx19
syntaxin 19
ISO
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive
ClinVar
PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532
NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191
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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
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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
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Acadvl
acyl-CoA dehydrogenase, very long chain
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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Acap1
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472
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Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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Alox15b
arachidonate 15-lipoxygenase, type B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
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Aloxe3
arachidonate epidermal lipoxygenase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Asgr1
asialoglycoprotein receptor 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
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Asgr2
asialoglycoprotein receptor 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
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Atp1b2
ATPase Na+/K+ transporting subunit beta 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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Aurkb
aurora kinase B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
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Bacc1
BPTF associated chromatin complex component 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601
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Bcl6b
BCL6B, transcription repressor
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974
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Borcs6
BLOC-1 related complex subunit 6
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:11472359 PMID:18241230 PMID:25741868 PMID:28492532
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cd19
CD19 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16672701
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:9150729 PMID:9746782 PMID:15358621 PMID:25741868
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd68
Cd68 molecule
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cd81
Cd81 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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Chd3
chromodomain helicase DNA binding protein 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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Chrnb1
cholinergic receptor nicotinic beta 1 subunit
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
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Cldn7
claudin 7
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
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Clec10a
C-type lectin domain containing 10A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435
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Cntrob
centrobin, centriole duplication and spindle assembly protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
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Cr2
complement C3d receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
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Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Ctdnep1
CTD nuclear envelope phosphatase 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
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Cyb5d1
cytochrome b5 domain containing 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
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Dclre1c
DNA cross-link repair 1C
ISO
DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human)
RGD
PMID:26476407
RGD:11251730
NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
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Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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Dnah2
dynein, axonemal, heavy chain 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
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Dvl2
dishevelled segment polarity protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
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Efnb3
ephrin B3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
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Eif4a1
eukaryotic translation initiation factor 4A1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,384,345...54,389,855
Ensembl chr10:54,384,347...54,389,858
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Eif5a
eukaryotic translation initiation factor 5A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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Elp5
elongator acetyltransferase complex subunit 5
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
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Fbxo39
F-box protein 39
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906
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Fcgr2a
Fc gamma receptor 2A
ISO
protein:decreased expression:blood, monocyte
RGD
PMID:17900300
RGD:5147988
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fgf11
fibroblast growth factor 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062
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Fxr2
FMR1 autosomal homolog 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964
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Gabarap
GABA type A receptor-associated protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765
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Gps2
G protein pathway suppressor 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
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Gucy2e
guanylate cyclase 2E
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
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Icos
inducible T-cell co-stimulator
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar
PMID:11590134 PMID:15229184 PMID:20529958 PMID:25741868 PMID:28993958
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Il21
interleukin 21
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IL21 DEFICIENCY
CTD ClinVar
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il21r
interleukin 21 receptor
ISO
DNA:SNPs:exons:
RGD
PMID:18254984
RGD:6892941
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Kcnab3
potassium voltage-gated channel subfamily A regulatory beta subunit 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
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Kctd11
potassium channel tetramerization domain containing 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760
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Kdm6b
lysine demethylase 6B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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Manba
mannosidase beta
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:25741868
NCBI chr 2:223,910,432...224,002,988
Ensembl chr 2:223,910,432...224,002,983
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Mbl2
mannose binding lectin 2
ISO
DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human)
RGD
PMID:10652157
RGD:4889436
NCBI chr 1:228,016,439...228,024,736
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Mir195
microRNA 195
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
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Mpdu1
mannose-P-dolichol utilization defect 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
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Ms4a1
membrane spanning 4-domains A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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Naa38
N(alpha)-acetyltransferase 38, NatC auxiliary subunit
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
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Neurl4
neuralized E3 ubiquitin protein ligase 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
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Nfkb1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common variable immunodeficiency
CTD ClinVar
PMID:16199547 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29477724 PMID:32165824 PMID:32278790 PMID:32499645 PMID:32581362 PMID:32918165 More...
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nfkb2
nuclear factor kappa B subunit 2
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common variable immunodeficiency
CTD ClinVar MouseDO
PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:30941118 More...
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Nlgn2
neuroligin 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,544,461...54,557,854
Ensembl chr10:54,544,588...54,558,434
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:T cell (human)
RGD
PMID:22697005
RGD:6771226
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Per1
period circadian regulator 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
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Phf23
PHD finger protein 23
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782
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Plscr3
phospholipid scramblase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709
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Polr2a
RNA polymerase II subunit A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 PMID:26457731 PMID:26996199 PMID:28492532 PMID:29772310 PMID:31334206 PMID:31388879 PMID:32581362 PMID:32655540 More...
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Rnasek
ribonuclease K
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms (human)
RGD
PMID:10361244
RGD:5147864
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Sat2
spermidine/spermine N1-acetyltransferase family member 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,340,756...54,343,507
Ensembl chr10:54,340,372...54,343,224
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Senp3
SUMO specific peptidase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593
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Shbg
sex hormone binding globulin
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
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Slc13a5
solute carrier family 13 member 5
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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Slc16a11
solute carrier family 16, member 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915
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Slc16a13
solute carrier family 16, member 13
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788
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Slc2a4
solute carrier family 2 member 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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Slc35g3
solute carrier family 35, member G3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748
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Sox15
SRY-box transcription factor 15
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591
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Spem1
spermatid maturation 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131
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Spem2
SPEM family member 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058
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Tekt1
tektin 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572
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Tmem102
transmembrane protein 102
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,523,901...54,525,997
Ensembl chr10:54,523,585...54,525,990
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Tmem256
transmembrane protein 256
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
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Tmem88
transmembrane protein 88
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
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Tmem95
transmembrane protein 95
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset
CTD ClinVar
PMID:8072530 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 PMID:16630947 PMID:16782407 PMID:16899196 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17556024 PMID:17697196 PMID:17947292 PMID:17983875 PMID:18200502 PMID:18954329 PMID:18978466 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20156508 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21675890 PMID:21724465 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29077208 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30090215 PMID:30290665 PMID:30665703 PMID:30723478 PMID:30739909 PMID:31203817 PMID:31530980 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33046446 PMID:33258288 PMID:33726816 PMID:34093558 PMID:34426522 PMID:34975878 PMID:35686370 PMID:37652172 PMID:37678716 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tnfrsf13c
TNF receptor superfamily member 13C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
CTD ClinVar
PMID:28492532
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
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Tnfsf12
TNF superfamily member 12
ISO
ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset
ClinVar
PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532
NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213
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Tnfsf13
TNF superfamily member 13
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
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Tnk1
tyrosine kinase, non-receptor, 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trappc1
trafficking protein particle complex subunit 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
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Ttc7a
tetratricopeptide repeat domain 7A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32499645 PMID:32581362 More...
NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892
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Vamp2
vesicle-associated membrane protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
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Wrap53
WD repeat containing, antisense to TP53
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Xaf1
XIAP associated factor 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770
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Ybx2
Y box binding protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
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Zbtb4
zinc finger and BTB domain containing 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492
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Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699
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Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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C2cd6
C2 calcium dependent domain containing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806
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Carf
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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Casp8
caspase 8
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cdk15
cyclin-dependent kinase 15
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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Flacc1
flagellum associated containing coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
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Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
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Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
OMIM ClinVar
PMID:9536098 PMID:11343122 PMID:11956294 PMID:12353035 PMID:12577056 PMID:15507387 PMID:16199547 PMID:17576681 PMID:19380800 PMID:20817864 PMID:24033266 PMID:25213377 PMID:25329329 PMID:25741868 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 PMID:31858365 PMID:32499645 More...
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Mpp4
MAGUK p55 scaffold protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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Nbeal1
neurobeachin-like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
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Ndufb3
NADH:ubiquinone oxidoreductase subunit B3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
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Nfkb2
nuclear factor kappa B subunit 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:24140114 PMID:28492532
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
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Stradb
STE20 related adaptor beta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
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Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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Tmem237
transmembrane protein 237
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25569260 PMID:25741868 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Trak2
trafficking kinesin protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
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Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
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Nfkb2
nuclear factor kappa B subunit 2
ISO
ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 PMID:24033266 PMID:24140114 PMID:24702956 PMID:24888602 PMID:25237204 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:29921932 PMID:30697212 PMID:30941118 PMID:31417880 PMID:32506361 PMID:32888943 PMID:34619682 PMID:34975878 PMID:36703223 More...
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Stim1
stromal interaction molecule 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 10
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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Il21
interleukin 21
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 11
OMIM ClinVar
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Nfkb1
nuclear factor kappa B subunit 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 | ClinVar Annotator: match by term: NFKB1-related condition
OMIM ClinVar
PMID:9383370 PMID:11583829 PMID:16199547 PMID:16639407 PMID:25741868 PMID:26279205 PMID:27365489 PMID:28492532 PMID:29077208 PMID:29477724 PMID:31803180 PMID:32165824 PMID:32278790 PMID:32499645 PMID:32581362 PMID:32918165 PMID:34447408 PMID:36105815 More...
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nfkbid
NFKB inhibitor delta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 12
ClinVar
NCBI chr 1:85,679,353...85,690,415
Ensembl chr 1:85,680,861...85,690,447
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Ikzf1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: IKZF1-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13
OMIM ClinVar
PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:27993330 PMID:28096536 PMID:28492532 PMID:28927821 PMID:29889099 PMID:30940614 PMID:31057532 PMID:31089937 PMID:34329649 PMID:35566429 More...
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Arid4b
AT-rich interaction domain 4B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:51,138,419...51,262,894
Ensembl chr17:51,138,535...51,262,906
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B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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Coa6
cytochrome c oxidase assembly factor 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407
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Ggps1
geranylgeranyl diphosphate synthase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
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Gng4
G protein subunit gamma 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254
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Irf2bp2
interferon regulatory factor 2 binding protein 2
ISO
ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 PMID:35538558
NCBI chr19:54,559,417...54,565,096
Ensembl chr19:54,560,128...54,566,642
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Kcnk1
potassium two pore domain channel subfamily K member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:53,959,411...53,997,726
Ensembl chr19:53,959,657...53,997,724
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LOC120098679
small nucleolar RNA SNORA14
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,934,225...54,934,358
Ensembl chr19:54,934,225...54,934,358
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Lyst
lysosomal trafficking regulator
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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Nid1
nidogen 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:86,085,133...86,158,272
Ensembl chr17:86,085,077...86,158,267
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Rbm34
RNA binding motif protein 34
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,936,516...54,956,810
Ensembl chr19:54,936,531...54,956,715
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Slc35f3
solute carrier family 35, member F3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,102,811...54,371,765
Ensembl chr19:54,103,120...54,372,839
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Tarbp1
TAR (HIV-1) RNA binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,398,268...54,449,293
Ensembl chr19:54,398,253...54,449,261
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Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Tomm20
translocase of outer mitochondrial membrane 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198
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Ruvbl1
RuvB-like AAA ATPase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 15
ClinVar
PMID:28782633
NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
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Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 15
OMIM ClinVar
PMID:25741868 PMID:28782633
NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Decreased circulating antibody concentration
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Aldh3a2
aldehyde dehydrogenase 3 family, member A2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
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Alkbh5
alkB homolog 5, RNA demethylase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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Atpaf2
ATP synthase mitochondrial F1 complex assembly factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
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B9d1
B9 domain containing 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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Cops3
COP9 signalosome subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597
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Cr2
complement C3d receptor 2
ISO
ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
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Drc3
dynein regulatory complex subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369
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Drg2
developmentally regulated GTP binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969
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Epn2
epsin 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
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Fam83g
family with sequence similarity 83, member G
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
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Fbxw10
F-box and WD repeat domain containing 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907
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Flcn
folliculin
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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Flii
FLII, actin remodeling protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
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Gid4
GID complex subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,221,556...45,247,627
Ensembl chr10:45,245,754...45,247,621 Ensembl chr10:45,245,754...45,247,621
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Grap
GRB2-related adaptor protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
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Llgl1
LLGL scribble cell polarity complex component 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094
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Mapk7
mitogen-activated protein kinase 7
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
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Med9
mediator complex subunit 9
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464
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Mfap4
microfibril associated protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
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Mief2
mitochondrial elongation factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
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Mprip
myosin phosphatase Rho interacting protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,453,949...44,573,843
Ensembl chr10:44,453,929...44,569,118
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Myo15a
myosin XVA
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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Nt5m
5',3'-nucleotidase, mitochondrial
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150
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Pemt
phosphatidylethanolamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
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Pld6
phospholipase D family, member 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,578,536...44,581,187
Ensembl chr10:44,577,675...44,581,077
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Prpsap2
phosphoribosyl pyrophosphate synthetase-associated protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849
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Rai1
retinoic acid induced 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
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Rasd1
ras related dexamethasone induced 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186
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Rnf112
ring finger protein 112
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
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Shmt1
serine hydroxymethyltransferase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820
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Slc47a1
solute carrier family 47 member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
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Slc5a10
solute carrier family 5 member 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811
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Smcr8
SMCR8-C9orf72 complex subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876
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Srebf1
sterol regulatory element binding transcription factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
OMIM ClinVar
PMID:8072530 PMID:9536098 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 PMID:16618819 PMID:16630947 PMID:16782407 PMID:16899196 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17556024 PMID:17576681 PMID:17697196 PMID:17947292 PMID:17983875 PMID:18200502 PMID:18954329 PMID:18978466 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20156508 PMID:20652909 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21675890 PMID:21724465 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22922270 PMID:22983507 PMID:23225259 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25205549 PMID:25326637 PMID:25569260 PMID:25640679 PMID:25741868 PMID:25959671 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29077208 PMID:29114388 PMID:29146883 PMID:29531467 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30090215 PMID:30290665 PMID:30301590 PMID:30665703 PMID:30723478 PMID:30739909 PMID:30993493 PMID:31203817 PMID:31530980 PMID:31618753 PMID:31681265 PMID:32135276 PMID:32185379 PMID:32499645 PMID:32581362 PMID:33046446 PMID:33258288 PMID:33425813 PMID:33726816 PMID:33859323 PMID:34093558 PMID:34426522 PMID:34441032 PMID:34573280 PMID:34975878 PMID:35686370 PMID:37652172 PMID:37678716 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
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Tom1l2
target of myb1 like 2 membrane trafficking protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
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Top3a
DNA topoisomerase III alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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Tvp23b
trans-golgi network vesicle protein 23 homolog B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203
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Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 3
OMIM ClinVar
PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 PMID:25741868 PMID:28492532 PMID:34490048 More...
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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A4galt
alpha 1,4-galactosyltransferase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
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Aco2
aconitase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
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Ccdc134
coiled-coil domain containing 134
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050
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Cenpm
centromere protein M
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,748,026...113,759,296
Ensembl chr 7:113,747,516...113,764,258
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Chadl
chondroadherin-like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272
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Csdc2
cold shock domain containing C2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,451,998...113,466,464
Ensembl chr 7:113,451,998...113,466,463
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Cyb5r3
cytochrome b5 reductase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,306,686...114,324,247
Ensembl chr 7:114,306,685...114,324,298
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Desi1
desumoylating isopeptidase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,519,974...113,542,834
Ensembl chr 7:113,519,980...113,542,845
G
Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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L3mbtl2
L3MBTL histone methyl-lysine binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
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Mei1
meiotic double-stranded break formation protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511
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Mir33
microRNA 33
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,713,855...113,713,923
Ensembl chr 7:113,713,855...113,713,923
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Naga
alpha-N-acetylgalactosaminidase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
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Ndufa6
NADH:ubiquinone oxidoreductase subunit A6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
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Nfam1
NFAT activating protein with ITAM motif 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,139,318...114,175,395
Ensembl chr 7:114,139,345...114,175,442
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Pheta2
PH domain containing endocytic trafficking adaptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,855,437...113,861,910
Ensembl chr 7:113,857,249...113,861,871
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Phf5a
PHD finger protein 5A
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,378,469...113,385,035
Ensembl chr 7:113,378,471...113,385,460
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Pmm1
phosphomannomutase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022
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Poldip3
DNA polymerase delta interacting protein 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,274,845...114,303,278
Ensembl chr 7:114,275,085...114,303,271
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Polr3h
RNA polymerase III subunit H
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
G
Rangap1
RAN GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
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Rbx1
ring-box 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051
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Rrp7a
ribosomal RNA processing 7 homolog A
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817
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Septin3
septin 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,783,217...113,811,089
Ensembl chr 7:113,783,095...113,811,087
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Serhl2
serine hydrolase-like 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,246,035...114,266,298
Ensembl chr 7:114,246,056...114,272,781
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Shisa8
shisa family member 8
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,722,408...113,727,858
Ensembl chr 7:113,722,408...113,727,858
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Smdt1
single-pass membrane protein with aspartate-rich tail 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,862,162...113,865,245
Ensembl chr 7:113,860,611...113,865,226
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Smim45
small integral membrane protein 45
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,769,175...113,773,952
Ensembl chr 7:113,765,468...113,773,339
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Snu13
small nuclear ribonucleoprotein 13
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,565,293...113,570,887
Ensembl chr 7:113,565,295...113,570,872 Ensembl chr 1:113,565,295...113,570,872
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Srebf2
sterol regulatory element binding transcription factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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Tcf20
transcription factor 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
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Tef
TEF transcription factor, PAR bZIP family member
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,317,191...113,341,783
Ensembl chr 7:113,317,283...113,341,783
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Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:19666484 PMID:21041452 PMID:25741868 PMID:28492532 More...
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
G
Tob2
transducer of ERBB2, 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688
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Wbp2nl
WBP2 N-terminal like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333
G
Xpnpep3
X-prolyl aminopeptidase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878
G
Xrcc6
X-ray repair cross complementing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762
G
Zc3h7b
zinc finger CCCH-type containing 7B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399
G
Ms4a1
membrane spanning 4-domains A1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 5
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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Cd81
Cd81 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 6
OMIM ClinVar
PMID:20237408 PMID:25741868 PMID:28492532
NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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C13h1orf116
similar to human chromosome 1 open reading frame 116
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,187,442...42,201,432
Ensembl chr13:42,188,609...42,201,426
G
C4bpa
complement component 4 binding protein, alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205
G
C4bpb
complement component 4 binding protein, beta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,120,798...42,131,515
Ensembl chr13:42,120,798...42,131,817
G
Cd34
CD34 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,480,313...106,500,844
Ensembl chr13:106,480,043...106,499,832
G
Cd46
CD46 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
G
Cd55
CD55 molecule (Cromer blood group)
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
G
Cr1l
complement C3b/C4b receptor 1 like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,606,952...106,660,442
Ensembl chr13:106,574,858...106,660,445
G
Cr2
complement C3d receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 PMID:25741868 PMID:26193622 PMID:26325596 PMID:28492532 PMID:28499783 PMID:29148534 PMID:29867916 PMID:30075290 PMID:33046446 PMID:34426522 More...
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
G
Fcamr
Fc alpha and mu receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,273,891...42,288,002
Ensembl chr13:42,273,628...42,287,113
G
Fcmr
Fc mu receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,337,363...42,351,706
Ensembl chr13:42,337,414...42,351,653
G
Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
G
Il20
interleukin 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
G
Il24
interleukin 24
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487
G
Pfkfb2
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,147,473...42,174,699
Ensembl chr13:42,147,478...42,174,699
G
Pigr
polymeric immunoglobulin receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,298,905...42,326,877
Ensembl chr13:42,298,914...42,326,875
G
Plxna2
plexin A2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,163,103...106,358,979
Ensembl chr13:106,163,103...106,358,979
G
Yod1
YOD1 deubiquitinase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,175,047...42,181,661
Ensembl chr13:42,174,820...42,177,205
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Lrba
LPS responsive beige-like anchor protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 PMID:24033266 PMID:25468195 PMID:25640679 PMID:25741868 PMID:25931386 PMID:26122175 PMID:26206937 PMID:26768763 PMID:27379089 PMID:28197149 PMID:28473463 PMID:28492532 PMID:28720148 PMID:28956255 PMID:29867916 PMID:30363934 PMID:31432443 PMID:31876783 PMID:31887391 PMID:32084423 PMID:32135276 PMID:32154999 PMID:32499645 PMID:32531373 PMID:32707200 PMID:33225392 PMID:33359885 PMID:33481921 PMID:33717114 PMID:33864888 PMID:33942430 PMID:34093558 PMID:34573280 PMID:36074705 More...
NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
G
Mab21l2
mab-21 like 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity
ClinVar
PMID:25640679 PMID:26206937 PMID:26768763 PMID:28492532
NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Reduced protein C activity
CTD ClinVar
PMID:1301954 PMID:1301959 PMID:1511988 PMID:1511989 PMID:1868249 PMID:2602169 PMID:3185623 PMID:6589623 PMID:7482420 PMID:7605880 PMID:7670104 PMID:7792728 PMID:7865674 PMID:8128429 PMID:8165644 PMID:8292730 PMID:8462980 PMID:8499565 PMID:8704244 PMID:8807339 PMID:9798967 PMID:10805275 PMID:10942114 PMID:17152060 PMID:18573519 PMID:18954896 PMID:21045961 PMID:21621249 PMID:22545135 PMID:22627591 PMID:22817391 PMID:22944127 PMID:23332921 PMID:23389250 PMID:24028705 PMID:24162787 PMID:24509341 PMID:25637381 PMID:25741868 PMID:25748729 PMID:28111891 PMID:28492532 PMID:28607330 PMID:31064749 PMID:31254973 PMID:31680443 PMID:31980526 PMID:32717757 PMID:34355501 More...
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Abcb1a
ATP binding cassette subfamily B member 1A
susceptibility
ISO
associated with hepatitis C;DNA:SNP: :3435C>T(human)
RGD
PMID:28453396
RGD:14700902
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Cd86
CD86 molecule
ISO
associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human)
RGD
PMID:23840845
RGD:11354974
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
associated with hepatitis C; protein:increased expression:serum
RGD
PMID:18775023
RGD:27095893
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Ifnl3
interferon, lambda 3
susceptibility severity
ISO
associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human)
RGD
PMID:24293567 PMID:24293567
RGD:11528546 , RGD:11528546
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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Tcn2
transcobalamin 2
ISO
associated with Glomerulonephritis;protein:increased expression:serum:
RGD
PMID:3574578
RGD:11060121
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:19860001
RGD:10450529
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tslp
thymic stromal lymphopoietin
ISS
MouseDO
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
G
Aicda
activation-induced cytidine deaminase
ISO
associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human)
RGD
PMID:26219420
RGD:30296664
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Tslp
thymic stromal lymphopoietin
ISO
associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human)
RGD
PMID:25889007
RGD:38596329
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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Cd40lg
CD40 ligand
ISO
Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230
RGD
PMID:7678782
RGD:1599480
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Igkc
immunoglobulin kappa constant
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3931219
G
Ung
uracil-DNA glycosylase
ISO
Hyper-IgM syndrome 5, OMIM:608106
RGD
PMID:12958596
RGD:1599705
NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
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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
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Fcgr3a
Fc gamma receptor 3A
treatment
ISO
DNA:polymorphism: :p.V176F (human)
RGD
PMID:21538321
RGD:11344956
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Hbb
hemoglobin subunit beta
ISO
ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease
ClinVar
PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 PMID:1802884 PMID:1986365 PMID:2030155 PMID:2239966 PMID:2296310 PMID:2412200 PMID:2579336 PMID:2582106 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2898142 PMID:2898460 PMID:3048433 PMID:3267215 PMID:3354556 PMID:3690667 PMID:3752087 PMID:3821796 PMID:4232783 PMID:6061750 PMID:6268660 PMID:6272289 PMID:6280057 PMID:6285354 PMID:6583683 PMID:6584911 PMID:7137165 PMID:7229029 PMID:7384810 PMID:7993409 PMID:8199597 PMID:8201467 PMID:8462981 PMID:9556665 PMID:9859938 PMID:11001883 PMID:11501714 PMID:11713529 PMID:11741197 PMID:11830454 PMID:11880644 PMID:12124399 PMID:12818227 PMID:13066514 PMID:13108995 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13618691 PMID:13685866 PMID:13852872 PMID:14084634 PMID:14405428 PMID:14492555 PMID:14613965 PMID:14808148 PMID:15000665 PMID:15395398 PMID:15543018 PMID:15658184 PMID:15973412 PMID:16001361 PMID:16175509 PMID:17287491 PMID:17774955 PMID:18048408 PMID:18192399 PMID:19061217 PMID:19465909 PMID:19758965 PMID:20236848 PMID:20301551 PMID:20305663 PMID:20628988 PMID:20861612 PMID:20954261 PMID:20981092 PMID:21045822 PMID:21131035 PMID:21302591 PMID:21329186 PMID:21529713 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22244832 PMID:22471768 PMID:22494447 PMID:22625666 PMID:22957039 PMID:22975760 PMID:23065522 PMID:23144702 PMID:23297836 PMID:23591685 PMID:24123366 PMID:24493127 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25488433 PMID:25741868 PMID:26041415 PMID:26275168 PMID:26372199 PMID:26661037 PMID:27117572 PMID:27254408 PMID:27884173 PMID:28251416 PMID:28356267 PMID:28492532 PMID:30002798 PMID:30033078 PMID:30315176 PMID:30604644 PMID:31553106 PMID:32527859 PMID:33091040 PMID:33116287 PMID:34334128 PMID:34749363 PMID:36073655 More...
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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Cavin1
caveolae associated protein 1
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar
PMID:28492532
NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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Il4r
interleukin 4 receptor
no_association
ISO
DNA:mutation:cds:p.Q576R(human)
RGD
PMID:9537881
RGD:11530003
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6st
interleukin 6 cytokine family signal transducer
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar
PMID:25741868 PMID:32207811
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Stat3
signal transducer and activator of transcription 3
ISO ISS
OMIM:147060 ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome CTD Direct Evidence: marker/mechanism
MouseDO ClinVar CTD OMIM RGD
PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 PMID:17881745 PMID:17942886 PMID:18591410 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:19348930 PMID:19577286 PMID:20032313 PMID:20048285 PMID:20093388 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21107604 PMID:21288777 PMID:21300911 PMID:21324546 PMID:21690253 PMID:21792878 PMID:22030463 PMID:22084479 PMID:22126402 PMID:22533245 PMID:22581330 PMID:22591296 PMID:22751495 PMID:22859607 PMID:23342295 PMID:23584561 PMID:23584591 PMID:23659370 PMID:23830147 PMID:23926297 PMID:24033266 PMID:24260974 PMID:24350896 PMID:24452316 PMID:24628715 PMID:24797340 PMID:24837465 PMID:24995504 PMID:25038750 PMID:25349174 PMID:25359994 PMID:25543043 PMID:25586472 PMID:25640679 PMID:25739182 PMID:25741868 PMID:25873174 PMID:25962528 PMID:26384563 PMID:26702067 PMID:26743515 PMID:27091139 PMID:27198716 PMID:27226025 PMID:27302695 PMID:27315770 PMID:27345172 PMID:27379089 PMID:27799162 PMID:27884935 PMID:27980540 PMID:28062691 PMID:28098554 PMID:28197791 PMID:28253502 PMID:28315006 PMID:28356514 PMID:28359783 PMID:28424246 PMID:28492532 PMID:28579554 PMID:28587312 PMID:28628107 PMID:28667753 PMID:28977911 PMID:29077208 PMID:29162862 PMID:29180260 PMID:29296824 PMID:29330115 PMID:29378236 PMID:29803798 PMID:29868029 PMID:29931222 PMID:30092289 PMID:30443250 PMID:30617622 PMID:30910759 PMID:30940614 PMID:31002364 PMID:31069200 PMID:31278738 PMID:31558678 PMID:31596517 PMID:31717342 PMID:31737384 PMID:31770611 PMID:31771617 PMID:31774495 PMID:32047491 PMID:32135276 PMID:32188095 PMID:32231398 PMID:32248557 PMID:32273478 PMID:32499645 PMID:32531373 PMID:32768442 PMID:32888943 PMID:32901917 PMID:32915432 PMID:32944025 PMID:33003453 PMID:33060403 PMID:33225311 PMID:33343952 PMID:33365035 PMID:33579790 PMID:33717144 PMID:34060650 PMID:34075200 PMID:34134972 PMID:34137790 PMID:34366294 PMID:34390446 PMID:34619682 PMID:34796988 PMID:35882439 PMID:36240433 PMID:37081481 PMID:17676033 More...
RGD:6892956
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat5a
signal transducer and activator of transcription 5A
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar
PMID:28492532
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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Stat5b
signal transducer and activator of transcription 5B
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar
PMID:28492532
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
ClinVar
PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 PMID:28492532 More...
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Dock8
dedicator of cytokinesis 8
ISO
ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS DNA:mutation:cds:
OMIM ClinVar RGD
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 PMID:18060736 PMID:19776401 PMID:20004785 PMID:20226292 PMID:20622910 PMID:21324546 PMID:22006977 PMID:22476911 PMID:22534316 PMID:23380217 PMID:23859592 PMID:24033266 PMID:24418481 PMID:24673638 PMID:24797421 PMID:25167861 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26467025 PMID:26573532 PMID:26659092 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27398204 PMID:27457812 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28070732 PMID:28191889 PMID:28492532 PMID:28750028 PMID:29058101 PMID:29483666 PMID:29867916 PMID:30425284 PMID:30564305 PMID:30697212 PMID:31242861 PMID:31596517 PMID:31980526 PMID:32108967 PMID:32135276 PMID:32531373 PMID:32888943 PMID:33251169 PMID:33290277 PMID:33587123 PMID:33809641 PMID:33854233 PMID:34093558 PMID:34662886 PMID:35753512 PMID:37592284 PMID:39098944 PMID:21763205 More...
RGD:40907054
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Kank1
KN motif and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
ClinVar
PMID:28492532
NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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Zng1a
Zn regulated GTPase metalloprotein activator 1A
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
ClinVar
PMID:33290277
NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629
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Zfp341
zinc finger protein 341
ISO
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691
NCBI chr 3:143,122,699...143,156,250
Ensembl chr 3:143,119,093...143,156,249
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Il6st
interleukin 6 cytokine family signal transducer
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28747427 PMID:30309848 PMID:32207811 PMID:33771552 More...
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar
PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 PMID:28492532 More...
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Dmrt1
doublesex and mab-3 related transcription factor 1
ISO
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome
ClinVar
PMID:28492532
NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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Dock8
dedicator of cytokinesis 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome
CTD ClinVar
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 PMID:18060736 PMID:19776401 PMID:20004785 PMID:20226292 PMID:20622910 PMID:22006977 PMID:22476911 PMID:22534316 PMID:23380217 PMID:23859592 PMID:24033266 PMID:24418481 PMID:24673638 PMID:24797421 PMID:25167861 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26235511 PMID:26467025 PMID:26659092 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27457812 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28070732 PMID:28191889 PMID:28492532 PMID:28750028 PMID:28890024 PMID:29058101 PMID:29483666 PMID:29867916 PMID:30425284 PMID:30564305 PMID:30697212 PMID:31242861 PMID:31596517 PMID:31980526 PMID:32108967 PMID:32135276 PMID:32531373 PMID:32888943 PMID:33251169 PMID:33290277 PMID:33587123 PMID:33809641 PMID:33854233 PMID:34093558 PMID:34662886 PMID:35753512 PMID:37592284 PMID:39098944 More...
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Dop1a
DOP1 leucine zipper like protein A
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
PMID:24698316
NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16112032
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Kank1
KN motif and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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Pgm3
phosphoglucomutase 3
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
PMID:3500672 PMID:24698316
NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyper-IgE syndrome
CTD ClinVar
PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:20032313 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21792878 PMID:22751495 PMID:24033266 PMID:25038750 PMID:25741868 PMID:26384563 PMID:27226025 PMID:27799162 PMID:27980540 PMID:28098554 PMID:28315006 PMID:28492532 PMID:29077208 PMID:29868029 More...
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Zng1a
Zn regulated GTPase metalloprotein activator 1A
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar
PMID:33290277
NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629
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Aicda
activation-induced cytidine deaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Cd40
CD40 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Ung
uracil-DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
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Il6r
interleukin 6 receptor
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive
OMIM ClinVar
PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Stat6
signal transducer and activator of transcription 6
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
OMIM ClinVar
PMID:36884218 PMID:37316763
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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B2m
beta-2 microglobulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21793797
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Tlr9
toll-like receptor 9
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:23467932
RGD:7245987
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Reg1a
regenerating family member 1 alpha
ISO
mRNA:increased expression:gastric corpus (human)
RGD
PMID:10348814
RGD:9850135
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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Aicda
activation-induced cytidine deaminase
susceptibility onset
ISO
DNA:splice-site mutation:intron:IVS2+1G>T (human) DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human) DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)
RGD
PMID:11007475 PMID:15372234 PMID:11112359 PMID:17553565
RGD:1598906 , RGD:11039485 , RGD:11039483 , RGD:11039457
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Cd40
CD40 molecule
ISO
DNA:mutations:exons (human)
RGD
PMID:11675497
RGD:1599479
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Mmab
metabolism of cobalamin associated B
ISO
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type
ClinVar
PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
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Mvk
mevalonate kinase
ISO
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type
OMIM ClinVar
PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313768 PMID:11313769 PMID:12387810 PMID:12444096 PMID:12563048 PMID:12634869 PMID:13130485 PMID:15149516 PMID:15188372 PMID:15536479 PMID:15804303 PMID:16197847 PMID:16199547 PMID:16234278 PMID:16255052 PMID:16435210 PMID:16707534 PMID:16835861 PMID:17105862 PMID:17171314 PMID:17576681 PMID:18414213 PMID:18839211 PMID:18941711 PMID:19011501 PMID:19036780 PMID:19120372 PMID:19786432 PMID:19877056 PMID:20194276 PMID:21225694 PMID:21228398 PMID:21399979 PMID:21425920 PMID:21478439 PMID:21548022 PMID:21708801 PMID:22038276 PMID:22246419 PMID:22566169 PMID:22983302 PMID:23006543 PMID:23146290 PMID:23692791 PMID:23707710 PMID:23834120 PMID:23979089 PMID:23998246 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24531851 PMID:24561416 PMID:24656624 PMID:25149390 PMID:25502423 PMID:25677409 PMID:25708585 PMID:25721923 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26202976 PMID:26299986 PMID:26386126 PMID:26409462 PMID:26633545 PMID:26935981 PMID:26977311 PMID:26986117 PMID:26990548 PMID:27012807 PMID:27142780 PMID:27213830 PMID:27387687 PMID:27899390 PMID:28095071 PMID:28359055 PMID:28492532 PMID:28501347 PMID:28638818 PMID:28814775 PMID:29047407 PMID:29290516 PMID:29599418 PMID:29624229 PMID:31096039 PMID:31278138 PMID:31430439 PMID:31474985 PMID:31664448 PMID:32060250 PMID:32252977 PMID:32312770 PMID:32441320 PMID:32822427 PMID:33042144 PMID:33168400 PMID:33917151 PMID:34145613 PMID:34525209 PMID:34809655 PMID:35387795 PMID:35525811 More...
NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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A2m
alpha-2-macroglobulin
IEP
protein:increased expression:serum
RGD
PMID:9453001
RGD:10046046
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Alb
albumin
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10337936 PMID:9034259
RGD:11035279
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Gh1
growth hormone 1
treatment
ISO
associated with Sepsis
RGD
PMID:10923500
RGD:11352734
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15044820
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15044820
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Alb
albumin
susceptibility
ISO IAGP
RGD
PMID:7937781 PMID:1690892
RGD:1599028 , RGD:734959
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Apoa1
apolipoprotein A1
IDA
RGD
PMID:2123716
RGD:1599161
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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B2m
beta-2 microglobulin
susceptibility
ISO
RGD
PMID:16549777
RGD:1599429
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Gh1
growth hormone 1
treatment
ISO
associated with Liver Cirrhosis
RGD
PMID:11986720
RGD:11352738
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Lipc
lipase C, hepatic type
IAGP
protein:reduced expression:plasma (rat)
RGD
PMID:10844597
RGD:2308785
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Rps6kb1
ribosomal protein S6 kinase B1
IDA
associated with Liver Cirrhosis, Experimental
RGD
PMID:16169275
RGD:1643028
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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Oas1a
2'-5' oligoadenylate synthetase 1A
ISO
ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia
OMIM ClinVar
PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 PMID:34145065 More...
NCBI chr12:35,669,798...35,680,505
Ensembl chr12:35,669,801...35,680,517
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Ap1m2
adaptor related protein complex 1 subunit mu 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,838,579...19,856,560
Ensembl chr 8:19,838,580...19,856,482
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Atg4d
autophagy related 4D, cysteine peptidase
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,807,733...19,817,321
Ensembl chr 8:19,807,766...19,817,321
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Cdc37
cell division cycle 37, HSP90 cochaperone
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,677,400...19,690,761
Ensembl chr 8:19,671,938...19,690,809
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Cdkn2d
cyclin dependent kinase inhibitor 2D
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,831,874...19,834,640
Ensembl chr 8:19,831,866...19,834,674
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Dnm2
dynamin 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
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Dnmt1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Fdx2
ferredoxin 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849
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Icam1
intercellular adhesion molecule 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Icam4
intercellular adhesion molecule 4, Landsteiner-Wiener blood group
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,566,075...19,567,171
Ensembl chr 8:19,566,075...19,567,171
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Icam5
intercellular adhesion molecule 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,567,390...19,575,588
Ensembl chr 8:19,568,600...19,575,588
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Ilf3
interleukin enhancer binding factor 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,922,409...19,960,495
Ensembl chr 8:19,922,460...19,960,350
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Keap1
Kelch-like ECH-associated protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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Kri1
KRI1 homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,817,005...19,831,516
Ensembl chr 8:19,817,017...19,831,392
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Mrpl4
mitochondrial ribosomal protein L4
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,539,593...19,545,608
Ensembl chr 8:19,539,593...19,545,608
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Pde4a
phosphodiesterase 4A
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,690,816...19,753,538
Ensembl chr 8:19,703,290...19,751,961
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Qtrt1
queuine tRNA-ribosyltransferase catalytic subunit 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,965,801...19,973,843
Ensembl chr 8:19,966,336...19,973,837
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Raver1
ribonucleoprotein, PTB-binding 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,610,464...19,629,188
Ensembl chr 8:19,610,466...19,629,152
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S1pr2
sphingosine-1-phosphate receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574
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S1pr5
sphingosine-1-phosphate receptor 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,786,676...19,791,862
Ensembl chr 8:19,786,663...19,791,795
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Slc44a2
solute carrier family 44 member 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,870,867...19,905,345
Ensembl chr 8:19,870,888...19,905,342
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Tyk2
tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 PMID:21680795 PMID:22402565 PMID:24033266 PMID:25388448 PMID:25741868 PMID:25849893 PMID:26288847 PMID:26304966 PMID:27615517 PMID:27872624 PMID:28492532 PMID:29725107 PMID:30578352 PMID:31118190 PMID:32537443 PMID:33260630 PMID:33667394 PMID:34569645 PMID:35708626 More...
NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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Zglp1
zinc finger, GATA-like protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,599,871...19,604,762
Ensembl chr 8:19,599,998...19,604,547
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Hyou1
hypoxia up-regulated 1
ISO
ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532
NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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Sh3kbp1
SH3 domain-containing kinase-binding protein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AGMX2 | ClinVar Annotator: match by term: Immunodeficiency 61
OMIM CTD ClinVar
PMID:25741868 PMID:28492532 PMID:29636373
NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
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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
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Acacb
acetyl-CoA carboxylase beta
ISO
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5
ClinVar
PMID:28492532
NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
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Ung
uracil-DNA glycosylase
ISO
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5
OMIM ClinVar
PMID:9536098 PMID:12958596 PMID:15967827 PMID:16199547 PMID:17029639 PMID:17576681 PMID:21167187 PMID:22252118 PMID:22521144 PMID:23545420 PMID:25741868 PMID:28492532 PMID:29546359 More...
NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
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Aicda
activation-induced cytidine deaminase
ISO ISS
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 OMIM:605258
OMIM ClinVar MouseDO
PMID:9536098 PMID:11007475 PMID:11112359 PMID:12715918 PMID:12910268 PMID:14564357 PMID:14769937 PMID:14962793 PMID:15358621 PMID:15893695 PMID:16199547 PMID:16964591 PMID:17560278 PMID:17576681 PMID:18838546 PMID:20652909 PMID:21192628 PMID:22715099 PMID:23803409 PMID:24033266 PMID:24349193 PMID:24591601 PMID:25025377 PMID:25064858 PMID:25741868 PMID:26551569 PMID:27142677 PMID:27577878 PMID:28492532 PMID:32423680 PMID:33377626 PMID:34992599 More...
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Clec4d
C-type lectin domain family 4, member D
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
ClinVar
PMID:16964591 PMID:28492532
NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848
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Clec4e
C-type lectin domain family 4, member E
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
ClinVar
PMID:16964591 PMID:28492532
NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
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Clec6a-ps1
C-type lectin domain family 6, member A, pseudogene 1
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
ClinVar
PMID:16964591 PMID:28492532
NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605 Ensembl chr 4:156,539,408...156,558,605
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 2
ClinVar
PMID:16007086 PMID:16007087 PMID:17392798 PMID:18981294 PMID:21547394 PMID:22884984 PMID:23956760 PMID:25741868 PMID:26046366 PMID:26100089 PMID:27123465 PMID:28492532 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: IgA, selective deficiency of, TACI related | ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20156508 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23225259 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30301590 PMID:30665703 PMID:30723478 PMID:30739909 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33046446 PMID:33258288 PMID:33726816 PMID:34426522 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Ahi1
Abelson helper integration site 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27723758
NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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Clec16a
C-type lectin domain containing 16A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20694011 PMID:27723758
NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human)
RGD
PMID:19020530
RGD:11344917
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Icos
inducible T-cell co-stimulator
susceptibility
ISO
DNA:SNPs,haplotype: :rs4521021,rs10172036(human)
RGD
PMID:19020530
RGD:11344917
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20694011 PMID:27723758
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Pvt1
Pvt1 oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27723758
NCBI chr 7:93,656,528...93,879,938
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RT1-Bb
RT1 class II, locus Bb
ISO
RGD
PMID:22291608 PMID:10931389
RGD:11041755 , RGD:11041756
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Arl13a
ADP ribosylation factor like GTPase 13A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,380,370...97,406,704
Ensembl chr X:97,380,390...97,406,702
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Armcx1
armadillo repeat containing, X-linked 1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,898,969...97,902,874
Ensembl chr X:97,898,883...97,903,299
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Armcx2
armadillo repeat containing, X-linked 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,980,662...97,985,523
Ensembl chr X:97,980,660...97,985,552
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Armcx3
armadillo repeat containing, X-linked 3
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,937,115...97,942,098
Ensembl chr X:97,936,999...97,942,098
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Armcx4
armadillo repeat containing, X-linked 4
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,860,526...97,870,912
Ensembl chr X:97,860,629...97,870,912
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Armcx6
armadillo repeat containing, X-linked 6
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,929,032...97,932,031
Ensembl chr X:97,929,041...97,931,977
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8013627 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8164701 PMID:8164707 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8562928 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8723128 PMID:8834236 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9192269 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9536098 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10612838 PMID:10666480 PMID:10737994 PMID:10754312 PMID:10844531 PMID:10859027 PMID:10887125 PMID:11027452 PMID:11102984 PMID:11206059 PMID:11410123 PMID:11438999 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11555397 PMID:11668622 PMID:11742281 PMID:11809909 PMID:11892085 PMID:11956200 PMID:12175777 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:12768435 PMID:14974089 PMID:15024743 PMID:15112668 PMID:15358621 PMID:15661032 PMID:15821893 PMID:16159644 PMID:16160918 PMID:16199547 PMID:16297664 PMID:16712653 PMID:16729790 PMID:16862044 PMID:16913189 PMID:16943681 PMID:16951917 PMID:17045652 PMID:17327079 PMID:17576681 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19763152 PMID:19904586 PMID:20307669 PMID:20529312 PMID:20721470 PMID:21039741 PMID:21397315 PMID:21520333 PMID:21984432 PMID:22406018 PMID:22736418 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24383975 PMID:24477949 PMID:24586880 PMID:24658450 PMID:24869598 PMID:24885015 PMID:25082755 PMID:25189416 PMID:25270678 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25777788 PMID:26915675 PMID:26931785 PMID:26960951 PMID:27199251 PMID:27512878 PMID:27535475 PMID:27577878 PMID:27593100 PMID:27980540 PMID:28049639 PMID:28212557 PMID:28359783 PMID:28418267 PMID:28492532 PMID:29202590 PMID:29424453 PMID:29496671 PMID:29503650 PMID:29709555 PMID:29875397 PMID:29921932 PMID:30018078 PMID:30072168 PMID:30240888 PMID:30290665 PMID:30311057 PMID:30564228 PMID:30697212 PMID:30882382 PMID:31795557 PMID:32067425 PMID:32117230 PMID:32441320 PMID:32455989 PMID:32477911 PMID:32499645 PMID:32552675 PMID:32581362 PMID:32888943 PMID:33013854 PMID:33042921 PMID:33154951 PMID:33224144 PMID:33225392 PMID:33377626 PMID:33584693 PMID:33815962 PMID:34029777 PMID:34182127 PMID:34262886 PMID:34975878 PMID:35382780 PMID:36029036 PMID:36790564 More...
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cenpi
centromere protein I
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,515,919...97,567,671
Ensembl chr X:97,515,972...97,567,657
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Cstf2
cleavage stimulation factor subunit 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,253,559...97,279,476
Ensembl chr X:97,253,586...97,279,476
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Drp2
dystrophin related protein 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684
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Gla
galactosidase, alpha
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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Hnrnph2
heterogeneous nuclear ribonucleoprotein H2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
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Nox1
NADPH oxidase 1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Nxf7
nuclear RNA export factor 7
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:98,535,374...98,552,562
Ensembl chr X:98,535,375...98,552,526
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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Rpl36a
ribosomal protein L36A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
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Srpx2
sushi-repeat-containing protein, X-linked 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195
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Sytl4
synaptotagmin-like 4
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,135,496...97,185,867
Ensembl chr X:97,135,500...97,185,854
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Taf7l
TATA-box binding protein associated factor 7-like
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023
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Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 PMID:22736418 PMID:28492532 More...
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
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Tmem35a
transmembrane protein 35A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,503,350...97,514,198
Ensembl chr X:97,503,350...97,514,197
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Tnmd
tenomodulin
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,057,137...97,072,634
Ensembl chr X:97,057,137...97,072,634
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Trmt2b
tRNA methyltransferase 2 homolog B
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,425,712...97,483,821
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Tspan6
tetraspanin 6
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,092,394...97,099,659
Ensembl chr X:97,092,388...97,099,309
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Xkrx
XK related, X-linked
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,341,158...97,353,175
Ensembl chr X:97,341,152...97,354,759
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Kng1
kininogen 1
IAGP
DNA:mutation:cds:p.Ala163Thr (rat)
RGD
PMID:11208766
RGD:68697
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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Cxcr4
C-X-C motif chemokine receptor 4
disease_progression
ISO
DNA:mutation:cds:1013C>G(p.S338X)(human)
RGD
PMID:24711662
RGD:11352304
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Fcgr3a
Fc gamma receptor 3A
disease_progression treatment
ISO
DNA:polymorphism: : DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:21564078 PMID:15659493
RGD:11040774 , RGD:11352262
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:bone marrow
RGD
PMID:32763516
RGD:401827827
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Il10
interleukin 10
ISO
DNA:SNPs: :multiple
RGD
PMID:19573080
RGD:11049165
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il6
interleukin 6
no_association
ISO
DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human) DNA:SNPs: :multiple
RGD
PMID:19573080 PMID:19573080
RGD:11049165 , RGD:11049165
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf4
interferon regulatory factor 4
ISO
RGD
PMID:23355206
RGD:11530052
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic
CTD ClinVar OMIM
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 PMID:30126942 More...
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:7780142
RGD:9585642
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12477733
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Mmab
metabolism of cobalamin associated B
ISO
ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar
PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
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Mvk
mevalonate kinase
ISO
ClinVar Annotator: match by term: Mevalonic aciduria CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1377680 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313768 PMID:11313769 PMID:12387810 PMID:12444096 PMID:12477733 PMID:12563048 PMID:12634869 PMID:13130485 PMID:15149516 PMID:15188372 PMID:15536479 PMID:15804303 PMID:16197847 PMID:16199547 PMID:16234278 PMID:16255052 PMID:16435210 PMID:16707534 PMID:16835861 PMID:17105862 PMID:17171314 PMID:17576681 PMID:17596604 PMID:18008182 PMID:18414213 PMID:18839211 PMID:18941711 PMID:19011501 PMID:19036780 PMID:19120372 PMID:19786432 PMID:19877056 PMID:20194276 PMID:21225694 PMID:21228398 PMID:21399979 PMID:21425920 PMID:21478439 PMID:21548022 PMID:21630610 PMID:21708801 PMID:22038276 PMID:22246419 PMID:22271696 PMID:22566169 PMID:22983302 PMID:23006543 PMID:23146290 PMID:23692791 PMID:23707710 PMID:23834120 PMID:23979089 PMID:23998246 PMID:24033266 PMID:24073415 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24531851 PMID:24561416 PMID:24656624 PMID:25149390 PMID:25502423 PMID:25677409 PMID:25708585 PMID:25721923 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26202976 PMID:26299986 PMID:26386126 PMID:26409462 PMID:26420133 PMID:26633545 PMID:26935981 PMID:26977311 PMID:26986117 PMID:26990548 PMID:27012807 PMID:27142780 PMID:27213830 PMID:27377765 PMID:27387687 PMID:27612399 PMID:27899390 PMID:28095071 PMID:28359055 PMID:28492532 PMID:28501347 PMID:28638818 PMID:28814775 PMID:29047407 PMID:29290516 PMID:29599418 PMID:29624229 PMID:30148429 PMID:30597534 PMID:31096039 PMID:31278138 PMID:31325964 PMID:31430439 PMID:31474985 PMID:31664448 PMID:32060250 PMID:32199921 PMID:32252977 PMID:32312770 PMID:32441320 PMID:32822427 PMID:32888943 PMID:33042144 PMID:33168400 PMID:33917151 PMID:34145613 PMID:34525209 PMID:34751146 PMID:34809655 PMID:35387795 PMID:35525811 More...
NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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Tnf
tumor necrosis factor
ISO
protein:increased expression:plasma
RGD
PMID:7780142
RGD:9585642
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ube3b
ubiquitin protein ligase E3B
ISO
ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar
PMID:28492532
NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Myd88
MYD88, innate immune signal transduction adaptor
ISS
MouseDO
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Nefh
neurofilament heavy chain
ISO
associated with Peripheral Nervous System Diseases
RGD
PMID:12536221
RGD:9693726
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Abcg2
ATP binding cassette subfamily G member 2
treatment
ISO
RGD
PMID:26314844 PMID:16917002
RGD:11081075 , RGD:11081144
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Ace
angiotensin I converting enzyme
ISO
protein:increased activity:serum
RGD
PMID:22345095
RGD:11038914
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Alb
albumin
disease_progression
ISO
RGD
PMID:17096887
RGD:11035276
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alkbh5
alkB homolog 5, RNA demethylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Arid4a
AT-rich interaction domain 4A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Aurka
aurora kinase A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Myelomatosis protein:increased expression:serum
ClinVar RGD
PMID:26619011 PMID:32856850
RGD:329955356
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bap1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Bard1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12429644 PMID:14656874
RGD:11353847
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bcl2l10
Bcl2-like 10
ISO
protein:increased expression:bone marrow :
RGD
PMID:27455953
RGD:14392808
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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Bcorl1
BCL6 co-repressor-like 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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Bnip3
BCL2 interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18172295
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24920063 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27236105 PMID:27276561 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29907801 PMID:29925953 PMID:31336229 PMID:31891627 PMID:33040082 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 PMID:22666503 PMID:23451180 PMID:25741868 PMID:28492532 PMID:30883759 PMID:32398771 PMID:33646313 More...
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Btg1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649
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Cbl
Cbl proto-oncogene
ISO
mRNA:decreased expression:mononuclear cell:
RGD
PMID:23948411
RGD:11038794
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cbx7
chromobox 7
susceptibility
ISO
DNA:snp:intron:c.113+3502C>T (human) (rs877529) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23955597 PMID:23955597
RGD:11352716
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccn1
cellular communication network factor 1
exacerbates
ISO
mRNA, protein:increased expression:bone marrow (human) mRNA,protein:increased expression:bone marrow (human)
RGD
PMID:28035364 PMID:25061178
RGD:329845528 , RGD:329845546
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Ccnd1
cyclin D1
susceptibility
ISO
DNA:snp:exon:c.870G>A (rs603965) (human) ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 PMID:15755896 PMID:23502783 More...
RGD:1581171 , RGD:11353784
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccnd2
cyclin D2
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Ccnd3
cyclin D3
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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Cd40
CD40 molecule
treatment
ISO
human cells in a mouse model
RGD
PMID:10866315
RGD:11522720
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment disease_progression
ISO
protein:increased expression:serum (human)
RGD
PMID:15565183 PMID:22403003 PMID:27243341
RGD:11352240 , RGD:11352251 , RGD:11352268
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd46
CD46 molecule
ISO
protein:increased expression:plasma cell (human)
RGD
PMID:16728275
RGD:11352814
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd86
CD86 molecule
severity
ISO
protein:increased expression:bone marrow, plasma cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16611307 PMID:22705596
RGD:11354971
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdk4
cyclin-dependent kinase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:22804906 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29774366 More...
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:hypermethylation:: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16008847 PMID:12681979
RGD:11252185
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2c
cyclin-dependent kinase inhibitor 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 5:124,411,123...124,416,278
Ensembl chr 5:124,411,124...124,416,278
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Cfhr1
complement factor H-related 1
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:16930142
RGD:4892645
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Crbn
cereblon
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple myeloma
CTD ClinVar
PMID:26186254
NCBI chr 4:139,701,154...139,719,949
Ensembl chr 4:139,701,094...139,719,938
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7540856 PMID:8104070 PMID:8555506
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7534716 PMID:7540856
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyld
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility
ISO
DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human)
RGD
PMID:18285692
RGD:11352726
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment no_association
ISO
DNA:polymorphisms: :
RGD
PMID:17666363 PMID:20684753
RGD:11352748 , RGD:11352804
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
no_association
ISO
DNA:polymorphisms: :
RGD
PMID:20684753
RGD:11352804
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Dsg2
desmoglein 2
disease_progression
ISO
RGD
PMID:34245117
RGD:401851080
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Eif1ax
eukaryotic translation initiation factor 1A, X-linked
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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Eng
endoglin
severity
ISO
protein:increased expression:serum:
RGD
PMID:23576184
RGD:11041181
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Ephx1
epoxide hydrolase 1
no_association susceptibility
ISO
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) DNA:SNP:exon:rs2234922 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:19736056 PMID:16949155 PMID:24521996
RGD:11252116 , RGD:11252121 , RGD:11252122
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
DNA:SNP: :rs735482 (human)
RGD
PMID:21435719
RGD:10450871
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression sexual_dimorphism
ISO
DNA:polymorphism: :p.K751Q (rs13181) (human) DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)
RGD
PMID:22183071 PMID:17131345
RGD:11252199 , RGD:401827277
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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Faslg
Fas ligand
disease_progression
ISO
RGD
PMID:16321857
RGD:11049149
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fcgr2a
Fc gamma receptor 2A
disease_progression susceptibility
ISO
DNA:polymorphism: :rs1801274(human)
RGD
PMID:25850245 PMID:17315188
RGD:11040778 , RGD:11040938
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelomatosis
CTD ClinVar
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:10053006 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18642369 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:21936542 PMID:22045636 PMID:23972473 PMID:24075385 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgg
fibrinogen gamma chain
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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Flt3
Fms related receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:26521986
RGD:11075232
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:increased expression:bone marrow
RGD
PMID:34274946
RGD:329901767
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8599825
RGD:11352777
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gpx3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gstm1
glutathione S-transferase mu 1
severity no_association
ISO IAGP
RGD
PMID:17653713 PMID:15136237
RGD:10450826 , RGD:10450846
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
disease_progression no_association treatment
ISO
DNA:polymorphism:cds:p.I105V(human) DNA:polymorphism: :
RGD
PMID:23953887 PMID:18061666 PMID:17512053
RGD:10755413 , RGD:10755419 , RGD:11075094
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
susceptibility no_association
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:15136237 PMID:12624497
RGD:10450846 , RGD:10450847
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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H19
H19 imprinted maternally expressed transcript
severity
ISO
RNA:decrased expression:blood serum (human)
RGD
PMID:29470951
RGD:156430335
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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H1f4
H1.4 linker histone, cluster member
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
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H3c1
H3 clustered histone 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr17:41,368,379...41,368,902
Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856
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Hdac4
histone deacetylase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hfe
homeostatic iron regulator
susceptibility
ISO
DNA:missense mutation, haplotype:cds:p.C282Y (human)
RGD
PMID:10383894
RGD:8694350
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hk1
hexokinase 1
ISO
RGD
PMID:19996089
RGD:11353882
NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Myelomatosis ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12855565
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:serum:
RGD
PMID:7834632 PMID:7686390
RGD:11354981 , RGD:11520780
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Igf2r
insulin-like growth factor 2 receptor
ISO
protein:increased expression:serum,urine:
RGD
PMID:29940770
RGD:14985218
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Il10
interleukin 10
disease_progression
ISO
DNA:SNP, polymorphisms:promoter:-1082G>A, (human) protein:increased expression:serum
RGD
PMID:11307152 PMID:11022130
RGD:11041888 , RGD:11049458
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-511C>T (human) DNA:SNP:promoter:-889C>T (human)
RGD
PMID:25469832 PMID:17926179 PMID:1777241
RGD:11049156 , RGD:11051973 , RGD:11059513
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
ISO
DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human)
RGD
PMID:17926179
RGD:11051973
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
no_association
ISO
DNA:snp: :11100C>T (human) DNA:repeats:intron:
RGD
PMID:17926179 PMID:10848780
RGD:11051973 , RGD:11522764
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il4r
interleukin 4 receptor
susceptibility
ISO
DNA:SNP: :-228120T>C(rs2107356)(human)
RGD
PMID:17315188
RGD:11040938
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8520508 PMID:12855565 PMID:19330649
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Irf4
interferon regulatory factor 4
disease_progression treatment
ISO
DNA:translocation CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18568025 PMID:10557056 PMID:17690696 PMID:21707574
RGD:11526161 , RGD:11530019 , RGD:11530055
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Irf8
interferon regulatory factor 8
ISO
DNA:hypermethylation
RGD
PMID:23114132
RGD:329902071
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Kdm5c
lysine demethylase 5C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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Kmt2c
lysine methyltransferase 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 PMID:28492532 More...
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30891959 PMID:16321859 More...
RGD:1581756
NCBI chr 4:178,185,418...178,218,484
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
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Lig4
DNA ligase 4
ISO
DNA:polymorphisms CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis
OMIM CTD ClinVar RGD
PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:27063650 PMID:27612988 PMID:28492532 PMID:12471202 More...
RGD:1600305
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Maf
MAF bZIP transcription factor
ISS
OMIM:254500
MouseDO
NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:polymorphisms:cds:p.E148Q,M694V(human)
RGD
PMID:25202401
RGD:11531123
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
RGD
PMID:11830493
RGD:2317526
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821
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Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
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Mga
MAX dimerization protein MGA
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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Mir155
microRNA 155
disease_progression
ISO
miRNA:decreased expression:serum
RGD
PMID:25497370 PMID:28446295
RGD:21079441 , RGD:24922226
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir17
microRNA 17
disease_progression
ISO
miRNA:increased expression:plasma cell
RGD
PMID:23718138
RGD:329337383
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir19a
microRNA 19a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29687521
NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993
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Mir27a
microRNA 27a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
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Mir320a
microRNA 320a
ameliorates
ISO
human gene in mouse model
RGD
PMID:27086852
RGD:155882577
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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Mir92a1
microRNA 92a-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29687521
NCBI chr15:92,181,336...92,181,413
Ensembl chr15:92,181,336...92,181,413
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Mst1r
macrophage stimulating 1 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:missense mutations:cds:677C>T, 1298A>C (human)
RGD
PMID:24839819
RGD:10449397
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:polymorphism: :2756A>G(human)
RGD
PMID:17655928
RGD:11075095
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66G>A(human)
RGD
PMID:17655928
RGD:11075095
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9949172
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Ncor2
nuclear receptor co-repressor 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Nfkbia
NFKB inhibitor alpha
ISO
RGD
PMID:16540234 PMID:12377412
RGD:2298898 , RGD:2298895
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
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Nono
non-POU domain containing, octamer-binding
exacerbates
ISO
mRNA:increased expression: (human)
RGD
PMID:32410217
RGD:155900765
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Notch2
notch receptor 2
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:14726396
RGD:1580763
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Nox1
NADPH oxidase 1
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Nqo1
NAD(P)H quinone dehydrogenase 1
no_association
ISO
DNA:missense mutation:cds:p.P187S (human) DNA:missense mutation:cds:p.P187S (609C>T) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:18156703 PMID:18061666
RGD:10769348 , RGD:10755419
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nras
NRAS proto-oncogene, GTPase
treatment
ISO
DNA:mutation: : ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25073507 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 PMID:33681212 PMID:36130886 PMID:24335104 More...
RGD:11535049
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nuak1
NUAK family kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26873845
NCBI chr 7:19,330,034...19,401,918
Ensembl chr 7:19,329,933...19,401,913
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21917757
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pf4
platelet factor 4
ameliorates
ISO
RGD
PMID:21693026
RGD:329901828
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Pml
PML nuclear body scaffold
severity
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:22906876
RGD:41404686
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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Polr1g
RNA polymerase I subunit G
sexual_dimorphism
ISO
DNA:SNP:exon 1: p.G-21A (rs967591) (human)
RGD
PMID:17131345
RGD:401827277
NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
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Pon1
paraoxonase 1
severity treatment susceptibility
ISO
protein:decreased activity:serum (human) DNA:missense mutation:cds:p.Q192R (human)
RGD
PMID:25520116 PMID:22348216 PMID:15136237
RGD:11552578 , RGD:11040544 , RGD:10450846
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pramex1
PRAME like, X-linked 1
severity
ISO
associated with bortezomib treatment;mRNA:increased expression:bone marrow (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16179254 PMID:24791872
RGD:11535030
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prmt5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29158558
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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Psors1c2
psoriasis susceptibility 1 candidate 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11054717
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ranbp2
RAN binding protein 2
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:19171422
RGD:9835349
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Rbbp8
RB binding protein 8, endonuclease
exacerbates
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:30622325
RGD:401940173
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Rbp1
retinol binding protein 1
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:28492532
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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RT1-CE16
RT1 class I, locus CE16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17283154
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Runx1
RUNX family transcription factor 1
ISO
mRNA:splice variant
RGD
PMID:12560229
RGD:6482834
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Sgk1
serum/glucocorticoid regulated kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15908783 PMID:15908783
RGD:1581238
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sparc
secreted protein acidic and cysteine rich
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:hypermethylation: :
CTD RGD
PMID:18172295 PMID:23699600
RGD:11073605
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16208410
RGD:1581367
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tet3
tet methylcytosine dioxygenase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:21654517
RGD:11062101
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tgfb1
transforming growth factor, beta 1
disease_progression
ISO
DNA:hypermethylation: : protein:decreased expression:serum:
RGD
PMID:23699600 PMID:22560388
RGD:11073605 , RGD:11073614
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
treatment no_association
ISO
DNA:SNP:promoter:-238G>A (human) DNA:SNP:promoter:-308G>A (human)
RGD
PMID:12200397 PMID:12815949
RGD:10449450 , RGD:10449453
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b
TNF receptor superfamily member 10b
treatment
ISO
RGD
PMID:16531263
RGD:11038719
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tnfrsf17
TNF receptor superfamily member 17
ISO
RGD
PMID:15692072
RGD:2317306
NCBI chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tp53
tumor protein p53
disease_progression treatment
ISO
DNA:polymorphism:cds:p.R72P(human) protein:increased expression:nucleus: DNA:deletion: : ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2654466 PMID:3784963 PMID:7478555 PMID:7651740 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7761089 PMID:7791795 PMID:7881428 PMID:7887414 PMID:7969167 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8276238 PMID:8308926 PMID:8364550 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8816796 PMID:9020384 PMID:9047394 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9482117 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10732753 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11494139 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11904319 PMID:11920959 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15993273 PMID:16258005 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16793544 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20878954 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22484423 PMID:22666503 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23264849 PMID:23340422 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25952993 PMID:25961455 PMID:26014290 PMID:26022348 PMID:26066407 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26655088 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30093976 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31212162 PMID:31559875 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32817165 PMID:32906206 PMID:33372952 PMID:33471991 PMID:33758026 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:36219266 PMID:36988593 PMID:24611901 PMID:22261445 PMID:12745272 More...
RGD:11073716 , RGD:11073728 , RGD:11075073
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Trnt1
tRNA nucleotidyl transferase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
G
Tyms
thymidylate synthetase
treatment no_association
ISO
DNA:polymorphism: : DNA:repeats:5'UTR:
RGD
PMID:17512053 PMID:17655928
RGD:11075094 , RGD:11075095
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
G
Ulk4
unc-51 like kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22120009
NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924
G
Vegfa
vascular endothelial growth factor A
susceptibility
ISO
DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human)
RGD
PMID:24687381
RGD:11079182
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Xdh
xanthine dehydrogenase
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
G
Xpo5
exportin 5
severity
ISO
DNA:snp:3' utr:c.*659A>C (rs11077) (human)
RGD
PMID:22539802
RGD:11041735
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
G
Xrcc3
X-ray repair cross complementing 3
disease_progression
ISO
DNA:SNP,haplotype:: p.T241M (rs861535) (Human)
RGD
PMID:17131345
RGD:401827277
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
G
Xrcc4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNPs:multiple (human)
RGD
PMID:17901044
RGD:8698655
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
G
Xrcc5
X-ray repair cross complementing 5
susceptibility
ISO
DNA:SNP:3'-UTR (human)
RGD
PMID:17901044
RGD:8698655
NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018
G
Yap1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
G
Ythdf1
YTH N6-methyladenosine RNA binding protein F1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
G
Yy1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
G
B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:26619011
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24920063 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27236105 PMID:27276561 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29907801 PMID:29925953 PMID:31336229 PMID:31891627 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
G
Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:10053006 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18642369 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:22045636 PMID:23972473 PMID:24075385 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31775759 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
G
Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
G
Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 PMID:28492532 More...
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30891959 More...
NCBI chr 4:178,185,418...178,218,484
G
Lig4
DNA ligase 4
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11779494 PMID:15333585 PMID:16088910 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:27063650 PMID:27612988 PMID:28492532 More...
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
G
Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31775759 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
G
Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
G
Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25073507 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 PMID:33681212 PMID:36130886 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2654466 PMID:3784963 PMID:7478555 PMID:7651740 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7761089 PMID:7791795 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8276238 PMID:8308926 PMID:8364550 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8816796 PMID:9020384 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10732753 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11920959 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15993273 PMID:16258005 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16793544 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20878954 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22484423 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23264849 PMID:23340422 PMID:23538418 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25952993 PMID:25961455 PMID:26014290 PMID:26022348 PMID:26066407 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26655088 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32817165 PMID:32906206 PMID:33372952 PMID:33471991 PMID:33758026 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:36219266 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
DNA:missense mutations:cds:p.L223F, p.I403M (human) CTD Direct Evidence: marker/mechanism|therapeutic DNA:missense mutation:exon:p.R87H (3203G>A) (human) DNA:missense mutation:exon:p.A259T (8490G>A) (human)
CTD RGD
PMID:14707701 PMID:18376272 PMID:21445774 PMID:33761690 PMID:8128429 PMID:8845458 PMID:11434940 More...
RGD:1578392 , RGD:11099985 , RGD:11099984
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
G
Arl13b
ADP-ribosylation factor like GTPase 13B
ISO
ClinVar Annotator: match by term: Protein S deficiency disease
ClinVar
PMID:32581362
NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
G
Nsun3
NOP2/Sun RNA methyltransferase 3
ISO
ClinVar Annotator: match by term: Protein S deficiency disease
ClinVar
PMID:32581362
NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543
G
Pros1
protein S
no_association
ISO
ClinVar Annotator: match by term: Protein S deficiency disease DNA:missense mutations, deletion: :multiple DNA:frameshift mutation:exon:c.1113T>G (human) DNA:SNPs: : c.1016T>A, c.1138A>C (human) DNA:missense, nonsense, deletions: :multiple DNA:deletions, duplication:exon, intron DNA:missense mutation:exon:p.S460P (human)
ClinVar RGD
PMID:7579449 PMID:7803790 PMID:8943854 PMID:9031443 PMID:9241758 PMID:9536098 PMID:10447256 PMID:10706858 PMID:10790208 PMID:11127877 PMID:11858485 PMID:12351389 PMID:15712227 PMID:17576681 PMID:18322254 PMID:20880255 PMID:22166512 PMID:22261441 PMID:22951146 PMID:23813890 PMID:24014240 PMID:24055113 PMID:25272994 PMID:25637381 PMID:25741868 PMID:26466767 PMID:27652279 PMID:28492532 PMID:29321366 PMID:29748776 PMID:30543986 PMID:30669159 PMID:31064749 PMID:32581362 PMID:32964666 PMID:34355501 PMID:9657428 PMID:11776305 PMID:16885060 PMID:22261441 PMID:22261441 PMID:19466456 PMID:7579448 PMID:12907438 More...
RGD:1599209 , RGD:11251679 , RGD:11251677 , RGD:11250419 , RGD:11250419 , RGD:11250418 , RGD:11250415 , RGD:1578677
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
G
Stx19
syntaxin 19
ISO
ClinVar Annotator: match by term: Protein S deficiency disease
ClinVar
PMID:32581362
NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191
G
Tfpi
tissue factor pathway inhibitor
ISO
protein:decreased expression:plasma:
RGD
PMID:23079294 PMID:20002538
RGD:11060129 , RGD:11060140
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:1831824
RGD:7794711
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:16096327 PMID:16096327
RGD:11522758
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: IgAD1
ClinVar
PMID:17697196 PMID:18200502 PMID:18981294 PMID:21419480 PMID:21458042 PMID:21850030 PMID:22627058 PMID:22697072 PMID:22884984 PMID:25741868 PMID:27123465 PMID:28492532 PMID:30290665 PMID:31681265 PMID:34975878 PMID:35686370 PMID:37652172 PMID:37678716 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
G
Ifng
interferon gamma
ISO
mRNA:decreased expression:peripheral blood leukocyte:
RGD
PMID:9042436
RGD:10755693
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Alad
aminolevulinate dehydratase
ISO
protein:increased activity:erythrocyte
RGD
PMID:900140
RGD:12904674
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
G
Apob
apolipoprotein B
treatment
ISO
RGD
PMID:24035168
RGD:11354943
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Bcl11a
BCL11 transcription factor A
severity treatment
ISO
DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)
RGD
PMID:18667698 PMID:22360576 PMID:21998251
RGD:11099970 , RGD:11100007 , RGD:11099996
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
G
C3
complement C3
severity
ISO
protein:increased processing
RGD
PMID:7554454 PMID:3896597
RGD:11040773 , RGD:11040777
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
G
Cd36
CD36 molecule
treatment
ISO
protein:increased expression:erythrocyte
RGD
PMID:18322255 PMID:20015873
RGD:6893506 , RGD:11041114
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:plasma (human)
RGD
PMID:24368019
RGD:11352270
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Cfb
complement factor B
ISO
protein:decreased activity
RGD
PMID:10440069 PMID:12793071
RGD:11041159 , RGD:11041160
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
G
Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
susceptibility
ISO
DNA:polymorphisms: :c.681 G>A,wildtype(human)
RGD
PMID:20831548
RGD:11352749
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
G
Dhodh
dihydroorotate dehydrogenase (quinone)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
G
F2
coagulation factor II, thrombin
disease_progression
ISO
protein:increased expression:plasma:
RGD
PMID:26286849 PMID:8191393
RGD:11565074 , RGD:11565080
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
F3
coagulation factor III, tissue factor
ISO
protein:increased expression:plasma
RGD
PMID:15795541
RGD:11341683
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
G
Gch1
GTP cyclohydrolase 1
sexual_dimorphism
ISO
DNA:SNP, haplotype:rs8007267 (human)
RGD
PMID:24136375
RGD:329961567
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
G
Gpx1
glutathione peroxidase 1
treatment
ISO
protein:decreased expression:penis
RGD
PMID:19951064 PMID:20846340 PMID:22620981
RGD:11352756 , RGD:11352775 , RGD:11352757
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:14717789
RGD:11059503
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
RGD
PMID:23049400
RGD:10450863
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Hbb
hemoglobin subunit beta
ISO
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:429843 PMID:700140 PMID:721614 PMID:750553 PMID:808079 PMID:893136 PMID:909565 PMID:932531 PMID:974261 PMID:1112610 PMID:1148394 PMID:1177278 PMID:1244906 PMID:1301203 PMID:1353069 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1428944 PMID:1428947 PMID:1463768 PMID:1483699 PMID:1517108 PMID:1517111 PMID:1550780 PMID:1581247 PMID:1586746 PMID:1610915 PMID:1634236 PMID:1634366 PMID:1634368 PMID:1680789 PMID:1709134 PMID:1732017 PMID:1734721 PMID:1740317 PMID:1769663 PMID:1787101 PMID:1802884 PMID:1850955 PMID:1873227 PMID:1917531 PMID:1960615 PMID:1967205 PMID:1971109 PMID:1986365 PMID:1986379 PMID:2001456 PMID:2004023 PMID:2005117 PMID:2014803 PMID:2018842 PMID:2030155 PMID:2064964 PMID:2079437 PMID:2123063 PMID:2197725 PMID:2200760 PMID:2200762 PMID:2207008 PMID:2232267 PMID:2239966 PMID:2291577 PMID:2296310 PMID:2298457 PMID:2298920 PMID:2306523 PMID:2307460 PMID:2346726 PMID:2393712 PMID:2412200 PMID:2430648 PMID:2434529 PMID:2446680 PMID:2458145 PMID:2467892 PMID:2539344 PMID:2563949 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2599884 PMID:2606476 PMID:2606727 PMID:2634667 PMID:2703363 PMID:2713503 PMID:2753736 PMID:2822177 PMID:2867271 PMID:2875755 PMID:2887538 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2895770 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:2915972 PMID:2920213 PMID:2930724 PMID:2987224 PMID:2987809 PMID:3014870 PMID:3031297 PMID:3048433 PMID:3114175 PMID:3170235 PMID:3267215 PMID:3354556 PMID:3403716 PMID:3417300 PMID:3422218 PMID:3462712 PMID:3557993 PMID:3557994 PMID:3557998 PMID:3623977 PMID:3683554 PMID:3690667 PMID:3691763 PMID:3752087 PMID:3821796 PMID:3828533 PMID:3840039 PMID:3859465 PMID:3942130 PMID:3955238 PMID:3957690 PMID:4018033 PMID:4078867 PMID:4129558 PMID:4232783 PMID:4351905 PMID:4361439 PMID:4683875 PMID:4715135 PMID:4725603 PMID:4991321 PMID:5050915 PMID:5481775 PMID:5609824 PMID:5619995 PMID:5658717 PMID:5672850 PMID:5722880 PMID:5863839 PMID:5915974 PMID:6016610 PMID:6019668 PMID:6061750 PMID:6162860 PMID:6166632 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6198908 PMID:6246994 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6275383 PMID:6280057 PMID:6285354 PMID:6292840 PMID:6304979 PMID:6308558 PMID:6310991 PMID:6316272 PMID:6320218 PMID:6322284 PMID:6434492 PMID:6457059 PMID:6469698 PMID:6500990 PMID:6572978 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585381 PMID:6585831 PMID:6664996 PMID:6668188 PMID:6671904 PMID:6695908 PMID:6714226 PMID:6733281 PMID:6745619 PMID:6821648 PMID:6826539 PMID:6852251 PMID:6859036 PMID:6896219 PMID:6985481 PMID:7073867 PMID:7076659 PMID:7104238 PMID:7137165 PMID:7151176 PMID:7173395 PMID:7177196 PMID:7229029 PMID:7312624 PMID:7338475 PMID:7384810 PMID:7395858 PMID:7505125 PMID:7522523 PMID:7558878 PMID:7668219 PMID:7668221 PMID:7683931 PMID:7691242 PMID:7795641 PMID:7819068 PMID:7852087 PMID:7908281 PMID:7909640 PMID:7993409 PMID:8091935 PMID:8095930 PMID:8144357 PMID:8161774 PMID:8172199 PMID:8195010 PMID:8199027 PMID:8199597 PMID:8201467 PMID:8262525 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8454469 PMID:8462981 PMID:8477263 PMID:8494004 PMID:8518184 PMID:8602996 PMID:8619407 PMID:8718703 PMID:8839873 PMID:8917506 PMID:8978308 PMID:8980256 PMID:9028827 PMID:9048934 PMID:9101288 PMID:9113933 PMID:9140717 PMID:9140720 PMID:9160698 PMID:9163586 PMID:9223924 PMID:9225979 PMID:9234571 PMID:9340427 PMID:9342003 PMID:9401495 PMID:9450794 PMID:9490703 PMID:9495372 PMID:9536098 PMID:9556665 PMID:9586437 PMID:9653159 PMID:9834244 PMID:9845707 PMID:9859938 PMID:9875660 PMID:9949622 PMID:10203101 PMID:10335989 PMID:10367791 PMID:10520021 PMID:10583251 PMID:10606872 PMID:10612821 PMID:10815781 PMID:11001883 PMID:11179419 PMID:11186258 PMID:11196276 PMID:11300348 PMID:11425418 PMID:11501714 PMID:11559932 PMID:11713529 PMID:11734002 PMID:11741197 PMID:11791873 PMID:11791878 PMID:11830454 PMID:11857746 PMID:11880644 PMID:11939508 PMID:11939510 PMID:11943067 PMID:12000828 PMID:12124399 PMID:12144056 PMID:12144057 PMID:12144064 PMID:12149194 PMID:12172041 PMID:12210807 PMID:12324499 PMID:12368169 PMID:12383672 PMID:12403491 PMID:12403498 PMID:12488606 PMID:12702481 PMID:12709369 PMID:12764548 PMID:12779277 PMID:12818227 PMID:12827652 PMID:12850492 PMID:12955718 PMID:13066514 PMID:13108995 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13590135 PMID:13618691 PMID:13685866 PMID:13716853 PMID:13852872 PMID:13872094 PMID:14084634 PMID:14091853 PMID:14160125 PMID:14197371 PMID:14282052 PMID:14370233 PMID:14405428 PMID:14492555 PMID:14555304 PMID:14576320 PMID:14613965 PMID:14715623 PMID:14734204 PMID:14808148 PMID:15000665 PMID:15108284 PMID:15114532 PMID:15181845 PMID:15257926 PMID:15278762 PMID:15333505 PMID:15395398 PMID:15470211 PMID:15470216 PMID:15481886 PMID:15543018 PMID:15654898 PMID:15658184 PMID:15697092 PMID:15727901 PMID:15761692 PMID:15768552 PMID:15973412 PMID:16001361 PMID:16044458 PMID:16103715 PMID:16114182 PMID:16175509 PMID:16199547 PMID:16291734 PMID:16311287 PMID:16370487 PMID:16370495 PMID:16421096 PMID:16470532 PMID:16540414 PMID:16540415 PMID:16750922 PMID:16821247 PMID:17008283 PMID:17145605 PMID:17278112 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17486493 PMID:17486498 PMID:17486505 PMID:17565724 PMID:17576681 PMID:17654071 PMID:17655700 PMID:17655708 PMID:17774955 PMID:17932132 PMID:17949282 PMID:17994378 PMID:18024613 PMID:18048408 PMID:18056002 PMID:18081706 PMID:18096416 PMID:18192399 PMID:18266208 PMID:18294253 PMID:18495504 PMID:18568278 PMID:18603555 PMID:18818920 PMID:18954999 PMID:18976160 PMID:19000664 PMID:19061217 PMID:19092326 PMID:19254853 PMID:19429541 PMID:19460936 PMID:19465909 PMID:19486366 PMID:19631632 PMID:19657836 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19783722 PMID:19841268 PMID:19843386 PMID:19958184 PMID:19958198 PMID:19960060 PMID:20035706 PMID:20090224 PMID:20110664 PMID:20113284 PMID:20132300 PMID:20181291 PMID:20233970 PMID:20236848 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20309827 PMID:20353354 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20524821 PMID:20628988 PMID:20642336 PMID:20704537 PMID:20737602 PMID:20788973 PMID:20838957 PMID:20854120 PMID:20861612 PMID:20954261 PMID:20981092 PMID:21045822 PMID:21119755 PMID:21131035 PMID:21194254 PMID:21194265 PMID:21228398 PMID:21250876 PMID:21302591 PMID:21329186 PMID:21389146 PMID:21417574 PMID:21423179 PMID:21509314 PMID:21529713 PMID:21599435 PMID:21732929 PMID:21733559 PMID:21797702 PMID:21797703 PMID:21931510 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22110956 PMID:22145566 PMID:22188014 PMID:22200002 PMID:22239493 PMID:22244832 PMID:22260787 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22471768 PMID:22494447 PMID:22563936 PMID:22625666 PMID:22690826 PMID:22737496 PMID:22851993 PMID:22957039 PMID:22975760 PMID:22995479 PMID:23065522 PMID:23144702 PMID:23162295 PMID:23234478 PMID:23297836 PMID:23321370 PMID:23348723 PMID:23350016 PMID:23383304 PMID:23425204 PMID:23431002 PMID:23457306 PMID:23543793 PMID:23590658 PMID:23591685 PMID:23637309 PMID:23651435 PMID:23729725 PMID:23859443 PMID:24033266 PMID:24052702 PMID:24055728 PMID:24080465 PMID:24086942 PMID:24099628 PMID:24106605 PMID:24123366 PMID:24200214 PMID:24245819 PMID:24265529 PMID:24368026 PMID:24369358 PMID:24401016 PMID:24493127 PMID:24581976 PMID:24616059 PMID:24616209 PMID:24754789 PMID:24777453 PMID:24814631 PMID:24857915 PMID:24880717 PMID:24957539 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25130136 PMID:25135424 PMID:25155404 PMID:25244406 PMID:25332589 PMID:25332633 PMID:25370867 PMID:25405919 PMID:25408857 PMID:25412720 PMID:25480500 PMID:25488433 PMID:25525159 PMID:25525381 PMID:25572186 PMID:25617386 PMID:25666204 PMID:25677748 PMID:25741868 PMID:25754248 PMID:25818823 PMID:25825561 PMID:25849334 PMID:25856402 PMID:25976460 PMID:26029792 PMID:26041415 PMID:26041423 PMID:26044735 PMID:26076395 PMID:26076396 PMID:26084319 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26351951 PMID:26366554 PMID:26372199 PMID:26436569 PMID:26467025 PMID:26524961 PMID:26544676 PMID:26554253 PMID:26554862 PMID:26594346 PMID:26635043 PMID:26661037 PMID:26715484 PMID:26771086 PMID:26877226 PMID:26897028 PMID:26901597 PMID:26956563 PMID:27032675 PMID:27117572 PMID:27199182 PMID:27207683 PMID:27251090 PMID:27254408 PMID:27263053 PMID:27427187 PMID:27453201 PMID:27521855 PMID:27521862 PMID:27670359 PMID:27690257 PMID:27718361 PMID:27756326 PMID:27821015 PMID:27823958 PMID:27828729 PMID:27829298 PMID:27829304 PMID:27884173 PMID:27979672 PMID:28125089 PMID:28251416 PMID:28276871 PMID:28356267 PMID:28361595 PMID:28366028 PMID:28379995 PMID:28385923 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28667000 PMID:28670940 PMID:28698850 PMID:28802248 PMID:28865746 PMID:29157184 PMID:29240028 PMID:29255069 PMID:29295702 PMID:29319890 PMID:29464999 PMID:29484903 PMID:29519374 PMID:29695942 PMID:30002798 PMID:30033078 PMID:30046479 PMID:30249157 PMID:30275481 PMID:30315176 PMID:30489691 PMID:30604644 PMID:30626242 PMID:30820323 PMID:30843739 PMID:31096791 PMID:31106603 PMID:31130284 PMID:31134759 PMID:31164695 PMID:31190580 PMID:31240559 PMID:31268351 PMID:31411089 PMID:31456457 PMID:31553106 PMID:31589614 PMID:31714438 PMID:31718331 PMID:31890591 PMID:31973650 PMID:32039214 PMID:32069775 PMID:32126744 PMID:32142671 PMID:32190157 PMID:32411010 PMID:32412692 PMID:32420772 PMID:32472543 PMID:32527859 PMID:32581362 PMID:32664780 PMID:32860008 PMID:32869674 PMID:33000750 PMID:33091040 PMID:33116287 PMID:33244864 PMID:33279152 PMID:33287582 PMID:33335418 PMID:33489049 PMID:33491330 PMID:33602051 PMID:33829933 PMID:33851260 PMID:33867742 PMID:34092029 PMID:34100337 PMID:34293487 PMID:34334128 PMID:34426522 PMID:34474730 PMID:34749363 PMID:35023007 PMID:35052472 PMID:35143361 PMID:35287566 PMID:35615994 PMID:35982159 PMID:35982160 PMID:36073655 PMID:37826942 PMID:37845805 PMID:6304979 More...
RGD:1600892
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
G
Hbe1
hemoglobin subunit epsilon 1
treatment
ISO
DNA:SNP: :rs7130110 (human)
RGD
PMID:12124399 PMID:23409025
RGD:11353858 , RGD:11353860
NCBI chr 1:158,282,931...158,458,855
Ensembl chr 1:158,282,936...158,284,391
G
Hk1
hexokinase 1
ISO
protein:alternative form:erythrocyte
RGD
PMID:5686464
RGD:11353884
NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
G
Hmbs
hydroxymethylbilane synthase
ISO
protein:increased activity:erythrocyte
RGD
PMID:900140
RGD:12904674
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
G
Hmox1
heme oxygenase 1
treatment
ISO IMP
RGD
PMID:11238038 PMID:20306336
RGD:10755563 , RGD:10755565
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:24281564
RGD:11046271
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il5
interleukin 5
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:25843670
RGD:11354938
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
G
Mdm2
MDM2 proto-oncogene
ISO
RGD
PMID:21085184
RGD:10412315
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
G
Mthfr
methylenetetrahydrofolate reductase
severity no_association
ISO
DNA:SNP: :677C>T (human) DNA:SNP: :1298A>C (human)
RGD
PMID:22924497 PMID:20113291 PMID:22924497
RGD:10449403 , RGD:10449420 , RGD:10449403
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29255069
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Nos3
nitric oxide synthase 3
severity
ISO
DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human)
RGD
PMID:24088668
RGD:11533647
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nppb
natriuretic peptide B
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20408845 PMID:21689089
RGD:5685653
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
G
Pecam1
platelet and endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:20306667
RGD:11541101
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
G
Pgf
placental growth factor
ISO
protein:increased expression:plasma
RGD
PMID:20040765
RGD:6483588
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
G
Pon1
paraoxonase 1
ISO
protein:decreased activity: serum (human)
RGD
PMID:24508012
RGD:11553835
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
G
RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism, haplotype
RGD
PMID:19254255
RGD:11041761
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
Selp
selectin P
ISO
RGD
PMID:21071696
RGD:6219007
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
G
Spta1
spectrin, alpha, erythrocytic 1
ISS
OMIM:603903
MouseDO
NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
G
Tgfb1
transforming growth factor, beta 1
ISO
protein:increased expression:plasma:
RGD
PMID:26928604
RGD:11062147
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14965870 PMID:8140855
RGD:10449460
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Umps
uridine monophosphate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
G
Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16916123
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
G
Hbb
hemoglobin subunit beta
ISO
ClinVar Annotator: match by term: Sickle cell disease
OMIM ClinVar
PMID:14973 PMID:81926 PMID:88735 PMID:429843 PMID:721614 PMID:750553 PMID:808079 PMID:893136 PMID:909565 PMID:932531 PMID:1112610 PMID:1177278 PMID:1244906 PMID:1301203 PMID:1353069 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1428944 PMID:1428947 PMID:1463768 PMID:1483699 PMID:1517108 PMID:1517111 PMID:1550780 PMID:1581247 PMID:1586746 PMID:1610915 PMID:1634236 PMID:1634366 PMID:1634368 PMID:1680789 PMID:1709134 PMID:1732017 PMID:1734721 PMID:1740317 PMID:1769663 PMID:1787101 PMID:1802884 PMID:1850955 PMID:1873227 PMID:1917531 PMID:1960615 PMID:1967205 PMID:1971109 PMID:1986365 PMID:1986379 PMID:2001456 PMID:2004023 PMID:2005117 PMID:2014803 PMID:2018842 PMID:2030155 PMID:2064964 PMID:2079437 PMID:2123063 PMID:2197725 PMID:2200760 PMID:2200762 PMID:2207008 PMID:2232267 PMID:2239966 PMID:2291577 PMID:2296310 PMID:2298457 PMID:2298920 PMID:2306523 PMID:2307460 PMID:2346726 PMID:2393712 PMID:2412200 PMID:2430648 PMID:2434529 PMID:2446680 PMID:2458145 PMID:2467892 PMID:2539344 PMID:2563949 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2599884 PMID:2606476 PMID:2606727 PMID:2634667 PMID:2703363 PMID:2713503 PMID:2753736 PMID:2822177 PMID:2867271 PMID:2875755 PMID:2887538 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2895770 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:2915972 PMID:2920213 PMID:2987224 PMID:2987809 PMID:3014870 PMID:3031297 PMID:3048433 PMID:3114175 PMID:3170235 PMID:3267215 PMID:3354556 PMID:3403716 PMID:3417300 PMID:3422218 PMID:3462712 PMID:3557993 PMID:3557994 PMID:3557998 PMID:3623977 PMID:3683554 PMID:3690667 PMID:3691763 PMID:3752087 PMID:3821796 PMID:3828533 PMID:3840039 PMID:3859465 PMID:3942130 PMID:3955238 PMID:3957690 PMID:4018033 PMID:4078867 PMID:4129558 PMID:4232783 PMID:4351905 PMID:4361439 PMID:4683875 PMID:4991321 PMID:5050915 PMID:5481775 PMID:5609824 PMID:5619995 PMID:5658717 PMID:5672850 PMID:5863839 PMID:5915974 PMID:6019668 PMID:6061750 PMID:6162860 PMID:6166632 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6198908 PMID:6246994 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6275383 PMID:6280057 PMID:6285354 PMID:6292840 PMID:6304979 PMID:6308558 PMID:6310991 PMID:6316272 PMID:6320218 PMID:6322284 PMID:6434492 PMID:6457059 PMID:6469698 PMID:6500990 PMID:6572978 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585381 PMID:6585831 PMID:6668188 PMID:6695908 PMID:6714226 PMID:6733281 PMID:6745619 PMID:6821648 PMID:6826539 PMID:6852251 PMID:6896219 PMID:6985481 PMID:7076659 PMID:7104238 PMID:7137165 PMID:7151176 PMID:7173395 PMID:7177196 PMID:7229029 PMID:7312624 PMID:7338475 PMID:7384810 PMID:7395858 PMID:7505125 PMID:7522523 PMID:7558878 PMID:7668219 PMID:7668221 PMID:7683931 PMID:7795641 PMID:7819068 PMID:7852087 PMID:7908281 PMID:7909640 PMID:7993409 PMID:8091935 PMID:8095930 PMID:8144357 PMID:8161774 PMID:8172199 PMID:8199027 PMID:8199597 PMID:8201467 PMID:8262525 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8454469 PMID:8462981 PMID:8477263 PMID:8518184 PMID:8602996 PMID:8619407 PMID:8718703 PMID:8839873 PMID:8917506 PMID:8978308 PMID:8980256 PMID:9028827 PMID:9048934 PMID:9101288 PMID:9113933 PMID:9140717 PMID:9140720 PMID:9160698 PMID:9163586 PMID:9223924 PMID:9225979 PMID:9234571 PMID:9340427 PMID:9342003 PMID:9401495 PMID:9450794 PMID:9490703 PMID:9495372 PMID:9536098 PMID:9556665 PMID:9586437 PMID:9653159 PMID:9834244 PMID:9845707 PMID:9859938 PMID:9875660 PMID:9949622 PMID:10203101 PMID:10335989 PMID:10367791 PMID:10520021 PMID:10583251 PMID:10606872 PMID:10612821 PMID:10815781 PMID:11001883 PMID:11179419 PMID:11186258 PMID:11300348 PMID:11425418 PMID:11501714 PMID:11559932 PMID:11713529 PMID:11741197 PMID:11791873 PMID:11791878 PMID:11830454 PMID:11857746 PMID:11880644 PMID:11939508 PMID:11939510 PMID:11943067 PMID:12000828 PMID:12124399 PMID:12144056 PMID:12144057 PMID:12144064 PMID:12149194 PMID:12172041 PMID:12210807 PMID:12324499 PMID:12368169 PMID:12383672 PMID:12403491 PMID:12403498 PMID:12488606 PMID:12702481 PMID:12709369 PMID:12764548 PMID:12779277 PMID:12818227 PMID:12827652 PMID:12850492 PMID:12955718 PMID:13066514 PMID:13108995 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13590135 PMID:13618691 PMID:13685866 PMID:13716853 PMID:13852872 PMID:13872094 PMID:14084634 PMID:14091853 PMID:14160125 PMID:14282052 PMID:14405428 PMID:14492555 PMID:14555304 PMID:14576320 PMID:14613965 PMID:14715623 PMID:14734204 PMID:14808148 PMID:15000665 PMID:15108284 PMID:15114532 PMID:15181845 PMID:15257926 PMID:15278762 PMID:15395398 PMID:15470211 PMID:15481886 PMID:15543018 PMID:15654898 PMID:15658184 PMID:15697092 PMID:15727901 PMID:15761692 PMID:15768552 PMID:15973412 PMID:16001361 PMID:16044458 PMID:16103715 PMID:16114182 PMID:16175509 PMID:16199547 PMID:16291734 PMID:16311287 PMID:16370495 PMID:16421096 PMID:16470532 PMID:16540414 PMID:16540415 PMID:16750922 PMID:16821247 PMID:17008283 PMID:17145605 PMID:17278112 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17486493 PMID:17486498 PMID:17486505 PMID:17565724 PMID:17576681 PMID:17654071 PMID:17655700 PMID:17774955 PMID:17932132 PMID:17949282 PMID:17994378 PMID:18024613 PMID:18048408 PMID:18056002 PMID:18081706 PMID:18096416 PMID:18192399 PMID:18266208 PMID:18294253 PMID:18495504 PMID:18568278 PMID:18603555 PMID:18818920 PMID:18954999 PMID:18976160 PMID:19000664 PMID:19061217 PMID:19092326 PMID:19254853 PMID:19429541 PMID:19460936 PMID:19465909 PMID:19486366 PMID:19631632 PMID:19657836 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19841268 PMID:19843386 PMID:19958184 PMID:19960060 PMID:20035706 PMID:20110664 PMID:20113284 PMID:20132300 PMID:20181291 PMID:20233970 PMID:20236848 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20353354 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20524821 PMID:20628988 PMID:20642336 PMID:20704537 PMID:20737602 PMID:20788973 PMID:20854120 PMID:20861612 PMID:20954261 PMID:20981092 PMID:21045822 PMID:21119755 PMID:21131035 PMID:21194254 PMID:21194265 PMID:21228398 PMID:21250876 PMID:21302591 PMID:21329186 PMID:21389146 PMID:21417574 PMID:21423179 PMID:21509314 PMID:21529713 PMID:21599435 PMID:21732929 PMID:21797702 PMID:21797703 PMID:21931510 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22110956 PMID:22145566 PMID:22188014 PMID:22200002 PMID:22239493 PMID:22244832 PMID:22260787 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22471768 PMID:22494447 PMID:22563936 PMID:22625666 PMID:22690826 PMID:22737496 PMID:22851993 PMID:22957039 PMID:22975760 PMID:22995479 PMID:23065522 PMID:23144702 PMID:23162295 PMID:23234478 PMID:23297836 PMID:23321370 PMID:23348723 PMID:23350016 PMID:23383304 PMID:23425204 PMID:23431002 PMID:23457306 PMID:23590658 PMID:23591685 PMID:23637309 PMID:23651435 PMID:23859443 PMID:24052702 PMID:24055728 PMID:24080465 PMID:24086942 PMID:24099628 PMID:24106605 PMID:24123366 PMID:24200214 PMID:24245819 PMID:24265529 PMID:24368026 PMID:24369358 PMID:24401016 PMID:24493127 PMID:24581976 PMID:24616059 PMID:24616209 PMID:24754789 PMID:24777453 PMID:24814631 PMID:24857915 PMID:24880717 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25130136 PMID:25135424 PMID:25155404 PMID:25244406 PMID:25332589 PMID:25370867 PMID:25405919 PMID:25408857 PMID:25412720 PMID:25480500 PMID:25488433 PMID:25525159 PMID:25525381 PMID:25572186 PMID:25617386 PMID:25666204 PMID:25677748 PMID:25741868 PMID:25754248 PMID:25818823 PMID:25825561 PMID:25849334 PMID:25856402 PMID:25976460 PMID:26029792 PMID:26041415 PMID:26041423 PMID:26044735 PMID:26076395 PMID:26076396 PMID:26084319 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26351951 PMID:26366554 PMID:26372199 PMID:26436569 PMID:26467025 PMID:26524961 PMID:26554253 PMID:26554862 PMID:26594346 PMID:26635043 PMID:26661037 PMID:26715484 PMID:26771086 PMID:26877226 PMID:26897028 PMID:26956563 PMID:27032675 PMID:27117572 PMID:27199182 PMID:27207683 PMID:27251090 PMID:27254408 PMID:27263053 PMID:27427187 PMID:27453201 PMID:27670359 PMID:27690257 PMID:27718361 PMID:27756326 PMID:27821015 PMID:27823958 PMID:27828729 PMID:27829298 PMID:27829304 PMID:27884173 PMID:27979672 PMID:28125089 PMID:28251416 PMID:28276871 PMID:28356267 PMID:28361595 PMID:28366028 PMID:28379995 PMID:28385923 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28667000 PMID:28670940 PMID:28802248 PMID:28865746 PMID:29157184 PMID:29240028 PMID:29295702 PMID:29319890 PMID:29464999 PMID:29484903 PMID:29695942 PMID:30002798 PMID:30033078 PMID:30046479 PMID:30249157 PMID:30275481 PMID:30315176 PMID:30489691 PMID:30604644 PMID:30626242 PMID:30820323 PMID:30843739 PMID:31096791 PMID:31106603 PMID:31130284 PMID:31134759 PMID:31164695 PMID:31190580 PMID:31240559 PMID:31268351 PMID:31411089 PMID:31456457 PMID:31553106 PMID:31589614 PMID:31714438 PMID:31718331 PMID:31890591 PMID:31973650 PMID:32039214 PMID:32069775 PMID:32126744 PMID:32190157 PMID:32411010 PMID:32412692 PMID:32420772 PMID:32472543 PMID:32527859 PMID:32581362 PMID:32664780 PMID:32860008 PMID:32869674 PMID:33000750 PMID:33091040 PMID:33116287 PMID:33244864 PMID:33287582 PMID:33335418 PMID:33489049 PMID:33491330 PMID:33602051 PMID:33829933 PMID:33851260 PMID:33867742 PMID:34092029 PMID:34100337 PMID:34293487 PMID:34334128 PMID:34426522 PMID:34474730 PMID:34749363 PMID:35023007 PMID:35052472 PMID:35143361 PMID:35615994 PMID:35982159 PMID:35982160 PMID:36073655 PMID:37826942 PMID:37845805 More...
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
G
Serpinf1
serpin family F member 1
ISO
protein:increased expression:retinal blood vessels (human)
RGD
PMID:12957143
RGD:8554869
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
G
Hbb
hemoglobin subunit beta
ISO
ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN)
ClinVar
PMID:284392 PMID:974261 PMID:1891024 PMID:5097135 PMID:5481775 PMID:6859036 PMID:11757720 PMID:12144055 PMID:14311973 PMID:19429541 PMID:26119666 PMID:26467025 PMID:26635043 PMID:27207683 PMID:27521855 PMID:29365076 PMID:30604644 More...
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
G
Hp
haptoglobin
ISO
RGD
PMID:21595649 PMID:19023114
RGD:5147416 , RGD:5147440
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Gstm1
glutathione S-transferase mu 1
severity
ISO
associated with Anemia, Sickle Cell;DNA:deletion:: (human)
RGD
PMID:24840051
RGD:10450860
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
ISO
associated with Anemia, Sickle Cell;DNA:deletion:: (human)
RGD
PMID:23590899
RGD:10450838
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:promoter,exon:
RGD
PMID:20172753
RGD:11530044
NCBI chr 1:228,016,439...228,024,736
G
Nos3
nitric oxide synthase 3
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:repeats:intron:
RGD
PMID:25263931
RGD:11533931
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Pde9a
phosphodiesterase 9A
treatment
ISO
RGD
PMID:22833547
RGD:242905184
NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
G
Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
RGD
PMID:23643401
RGD:11100023
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
G
Btk
Bruton tyrosine kinase
ameliorates
ISO ISS
ClinVar Annotator: match by term: X-linked agammaglobulinemia OMIM:300755 CTD Direct Evidence: marker/mechanism Human gene in mouse model human gene in a mouse model DNA:mutations:exon, intron:multiple
OMIM ClinVar MouseDO CTD RGD
PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 PMID:7627183 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8164701 PMID:8164707 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9536098 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10678660 PMID:10737994 PMID:10754312 PMID:10844531 PMID:10859027 PMID:10887125 PMID:11102984 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11555397 PMID:11564824 PMID:11586956 PMID:11668622 PMID:11742281 PMID:11809909 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:12768435 PMID:14974089 PMID:15024743 PMID:15112668 PMID:15661032 PMID:16053733 PMID:16159644 PMID:16160918 PMID:16199547 PMID:16712653 PMID:16751014 PMID:16862044 PMID:16913189 PMID:16951917 PMID:17045652 PMID:17164954 PMID:17327079 PMID:17576681 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:21397315 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24383975 PMID:24820629 PMID:24885015 PMID:25142992 PMID:25525159 PMID:25741868 PMID:25777788 PMID:26915675 PMID:26981933 PMID:27512878 PMID:27577878 PMID:27980540 PMID:28492532 PMID:29424453 PMID:29503650 PMID:29921932 PMID:30072168 PMID:30240888 PMID:30290665 PMID:30311057 PMID:30564228 PMID:30627929 PMID:30697212 PMID:31803177 PMID:32499645 PMID:32581362 PMID:32888943 PMID:33042921 PMID:33224144 PMID:33377626 PMID:34029777 PMID:34975878 PMID:20574453 PMID:15142874 PMID:12655572 PMID:15024743 More...
RGD:124715475 , RGD:124713551 , RGD:11040698 , RGD:11040588
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISS
OMIM:300310 | OMIM:300755
MouseDO
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
G
Adgrg4
adhesion G protein-coupled receptor G4
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
G
Aicda
activation-induced cytidine deaminase
ISO
ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Arhgef6
Rac/Cdc42 guanine nucleotide exchange factor 6
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
G
Brs3
bombesin receptor subtype 3
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
G
Cd40
CD40 molecule
ISO
ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome
ClinVar
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome
ClinVar
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 PMID:7679801 PMID:7717401 PMID:7906987 PMID:7907793 PMID:7916370 PMID:8094231 PMID:8550833 PMID:8589998 PMID:8889581 PMID:9150729 PMID:9536098 PMID:9605317 PMID:9746782 PMID:10366125 PMID:10484640 PMID:10559240 PMID:10651941 PMID:11038461 PMID:11158612 PMID:11850600 PMID:14514918 PMID:14641931 PMID:15319456 PMID:15358621 PMID:15623492 PMID:15924140 PMID:16019685 PMID:16169277 PMID:16199547 PMID:16509032 PMID:17146684 PMID:17351759 PMID:17553565 PMID:17576681 PMID:18342287 PMID:18805740 PMID:18955577 PMID:19575287 PMID:20301576 PMID:20591076 PMID:20652909 PMID:20981468 PMID:21465648 PMID:21543760 PMID:22009004 PMID:22193914 PMID:22750225 PMID:22928961 PMID:22963373 PMID:23622016 PMID:23653974 PMID:24123890 PMID:24402618 PMID:24768948 PMID:24929972 PMID:25215306 PMID:25541662 PMID:25741868 PMID:26545377 PMID:26997321 PMID:27189378 PMID:27324886 PMID:27484504 PMID:28492532 PMID:28916186 PMID:29077208 PMID:29525420 PMID:30053428 PMID:30405923 PMID:31117086 PMID:31179555 PMID:31331973 PMID:32888943 PMID:33060515 PMID:34335625 PMID:35570134 PMID:35572607 PMID:35753512 PMID:35874699 PMID:36478253 More...
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Fhl1
four and a half LIM domains 1
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
G
Gpr101
G protein-coupled receptor 101
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
G
Htatsf1
HIV-1 Tat specific factor 1
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
G
Map7d3
MAP7 domain containing 3
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
G
Rbmx
RNA binding motif protein, X-linked
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
G
Slc9a6
solute carrier family 9 member A6
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
G
Ung
uracil-DNA glycosylase
ISO
ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome
ClinVar
NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
G
Vgll1
vestigial-like family member 1
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,979,657...134,996,007
G
Zic3
Zic family member 3
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
G
Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked
ClinVar
PMID:8758136
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all