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.
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Blnk
B-cell linker
susceptibility
ISO
DNA:splice-site mutation CTD Direct Evidence: marker/mechanism
CTD
PMID:10583958
RGD:1600518
NCBI chr 1:260,187,023...260,254,490
Ensembl chr 1:260,186,967...260,254,600
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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
PMID:10352268 PMID:15142874 , PMID:8162018
RGD:1600526
NCBI chr X:105,360,922...105,390,580
Ensembl chr X:105,360,922...105,390,580
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Cd19
CD19 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16672701
NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
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Cd79a
CD79a molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980
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Cd79b
CD79b molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
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Lrrc8a
leucine rich repeat containing 8 VRAC subunit A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14660746
RGD:1599837
NCBI chr 3:8,801,544...8,829,506
Ensembl chr 3:8,802,852...8,828,533
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISS
OMIM:601495 | OMIM:612692 | OMIM:613500 | OMIM:613501 | OMIM:613502 | OMIM:613506 | OMIM:615214
MouseDO
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: Hypogammaglobulinemia
ClinVar
PMID:25741868 PMID:28782633
NCBI chr 4:120,453,577...120,467,932
Ensembl chr 4:120,453,581...120,467,932
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
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Ada
adenosine deaminase
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY, EARLY-ONSET ClinVar Annotator: match by OMIM:102700 ClinVar Annotator: match by synonym: SCID due to ADA deficiency, delayed onset
OMIM ClinVar
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1680289 PMID:1696926 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:8023852 PMID:8031011 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8589684 PMID:8614422 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9616253 PMID:9758612 PMID:9806422 PMID:10200056 PMID:11067872 PMID:11160213 PMID:11313286 PMID:11354825 PMID:11807006 PMID:14499267 PMID:16276484 PMID:16825284 PMID:17181544 PMID:17185467 PMID:18952502 PMID:19179314 PMID:19665771 PMID:19830125 PMID:20544538 PMID:21228398 PMID:21410451 PMID:21624848 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23260757 PMID:24033266 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25875700 PMID:25954555 PMID:26255240 PMID:26376800 PMID:27095930 PMID:27129325 PMID:27484032 PMID:27872624 PMID:28266921 PMID:28492532 PMID:29744787 PMID:30290665 PMID:30858051 PMID:31319225
NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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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:22857948 PMID:23233322 PMID:23283745 PMID:24033266 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:28138913 PMID:28420666 PMID:28492532 PMID:28615295 PMID:28790153
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:11133745 PMID:21664875 PMID:24290284 PMID:24406074 PMID:26476733 PMID:26596586 PMID:28492532 PMID:30290665
NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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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:16951917 PMID:17327079 PMID:17765309 PMID:18518992 PMID:19039656 PMID:19904586 PMID:20529312 PMID:23424595 PMID:25741868 PMID:27512878 PMID:27980540 PMID:28492532 PMID:29424453 PMID:29503650 PMID:30072168 PMID:30564228
NCBI chr X:105,360,922...105,390,580
Ensembl chr X:105,360,922...105,390,580
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Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1
ClinVar
PMID:25741868
NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980
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Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive
OMIM ClinVar
PMID:10525050 PMID:11920841 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980
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Blnk
B-cell linker
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar Annotator: match by OMIM:613502
OMIM ClinVar
PMID:10583958 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:260,187,023...260,254,490
Ensembl chr 1:260,186,967...260,254,600
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Zfp518a
zinc finger protein 518A
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:260,152,881...260,178,360
Ensembl chr 1:260,153,645...260,178,349
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Lrrc8a
leucine rich repeat containing 8 VRAC subunit A
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant
OMIM ClinVar
PMID:14660746 PMID:28492532
NCBI chr 3:8,801,544...8,829,506
Ensembl chr 3:8,802,852...8,828,533
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Cd79b
CD79b molecule
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive ClinVar Annotator: match by OMIM:612692
OMIM ClinVar
PMID:17675462 PMID:17709424 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive
OMIM ClinVar
PMID:22351933 PMID:25133428
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant
ClinVar OMIM
PMID:21693761 PMID:24216514 PMID:25741868 PMID:28492532
NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
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Prkcd
protein kinase C, delta
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III
OMIM ClinVar
PMID:11976687 PMID:23319571 PMID:23430113 PMID:23666743 PMID:25741868 PMID:28492532 PMID:30257684
NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
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Tnfrsf11a
TNF receptor superfamily member 11A
ISO
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 7 ClinVar Annotator: match by OMIM:612301
OMIM ClinVar
PMID:15231021 PMID:18606301 PMID:19940926 PMID:28492532
NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
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Cd19
CD19 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16672701
NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
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Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:25741868
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cd81
Cd81 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:216,237,663...216,253,460
Ensembl chr 1:216,237,697...216,253,311
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Cr2
complement C3d receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr13:113,890,274...113,927,824
Ensembl chr13:113,890,272...113,927,877
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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 chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
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Fcgr2a
Fc fragment of IgG receptor IIa
ISO
protein:decreased expression:blood, monocyte
RGD
PMID:17900300
RGD:5147988
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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Icos
inducible T-cell co-stimulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
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Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
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Il21
interleukin 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
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Il21r
interleukin 21 receptor
ISO
DNA:SNPs:exons:
RGD
PMID:18254984
RGD:6892941
NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
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Lrba
LPS responsive beige-like anchor protein
ISS
OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767
MouseDO
NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495
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Manba
mannosidase beta
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:25741868
NCBI chr 2:240,668,213...240,760,264
Ensembl chr 2:240,668,195...240,760,261
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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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Ms4a1
membrane spanning 4-domains A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:227,429,241...227,441,492
Ensembl chr 1:227,429,596...227,441,442
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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 ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD ClinVar
PMID:25741868 PMID:29477724
NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
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Nfkb2
nuclear factor kappa B subunit 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common variable immunodeficiency
CTD ClinVar
PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:30941118
NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
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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 chr10:94,850,971...94,913,202
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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
NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms (human)
RGD
PMID:10361244
RGD:5147864
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by OMIM:240500 ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common variable immunodeficiency 2
ClinVar CTD
PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 PMID:16630947 PMID:16782407 PMID:16899196 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17556024 PMID:17917015 PMID:17947292 PMID:17983875 PMID:18200502 PMID:18496551 PMID:18509552 PMID:18978466 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20006554 PMID:20156508 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 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:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916
NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
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Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr 7:123,453,799...123,456,289
Ensembl chr 7:123,453,788...123,456,268
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Tnfsf12
TNF superfamily member 12
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,290,780...56,300,137
Ensembl chr10:56,290,780...56,300,077
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Ttc7a
tetratricopeptide repeat domain 7A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:25741868
NCBI chr 6:10,912,383...11,014,279
Ensembl chr 6:10,912,383...11,014,278
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Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 1 ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT
OMIM ClinVar
PMID:11343122 PMID:12577056 PMID:15507387 PMID:19380800 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
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Nfkb2
nuclear factor kappa B subunit 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 1
ClinVar
PMID:24140114
NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
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Nfkb2
nuclear factor kappa B subunit 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 10
OMIM ClinVar
PMID:16303288 PMID:22013103 PMID:24033266 PMID:24140114 PMID:24702956 PMID:24888602 PMID:25237204 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28472507 PMID:28492532 PMID:28778864 PMID:29225085 PMID:29921932 PMID:30941118 PMID:31417880
NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
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Il21
interleukin 21
ISO
ClinVar Annotator: match by OMIM:615767
ClinVar OMIM
PMID:24746753
NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
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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 DEFICIENCY
ClinVar OMIM
PMID:11583829 PMID:16639407 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29077208 PMID:29477724
NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
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Nfkbid
NFKB inhibitor delta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 12
ClinVar
NCBI chr 1:88,883,816...88,892,543
Ensembl chr 1:88,885,937...88,892,615
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Ikzf1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 13
ClinVar OMIM
PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:28927821 PMID:31057532 PMID:31089937
NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
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Irf2bp2
interferon regulatory factor 2 binding protein 2
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 14
ClinVar OMIM
PMID:27016798 PMID:28492532
NCBI chr19:59,497,021...59,502,298
Ensembl chr19:59,499,876...59,502,161
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Cr2
complement C3d receptor 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 2
ClinVar
PMID:25741868
NCBI chr13:113,890,274...113,927,824
Ensembl chr13:113,890,272...113,927,877
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 2
OMIM ClinVar
PMID:8072530 PMID:15077010 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:17917015 PMID:17947292 PMID:17983875 PMID:18200502 PMID:18496551 PMID:18509552 PMID:18954329 PMID:18978466 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20006554 PMID:20156508 PMID:20652909 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 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:25569260 PMID:25741868 PMID:25959671 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27577878 PMID:28492532 PMID:29077208 PMID:29114388 PMID:29146883 PMID:29531467 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30290665 PMID:31681265
NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
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Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:123,453,799...123,456,289
Ensembl chr 7:123,453,788...123,456,268
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Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 3
OMIM ClinVar
PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
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Aco2
aconitase 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
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Ccdc134
coiled-coil domain containing 134
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,362,471...123,376,930
Ensembl chr 7:123,364,312...123,376,221
G
Cenpm
centromere protein M
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,464,615...123,476,336
Ensembl chr 7:123,464,490...123,476,238
G
Csdc2
cold shock domain containing C2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,168,811...123,183,336
Ensembl chr 7:123,168,811...123,183,335
G
Desi1
desumoylating isopeptidase 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,238,332...123,259,636
Ensembl chr 7:123,238,333...123,259,636
G
Mei1
meiotic double-stranded break formation protein 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,308,041...123,361,391
Ensembl chr 7:123,308,041...123,361,391
G
Mir33
microRNA 33
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,431,612...123,431,680
Ensembl chr 7:123,431,612...123,431,680
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Naga
alpha-N-acetylgalactosaminidase
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
G
Phf5a
PHD finger protein 5A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,095,286...123,101,851
Ensembl chr 7:123,095,288...123,101,869
G
Pmm1
phosphomannomutase 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,183,504...123,193,874
Ensembl chr 7:123,183,506...123,193,761
G
Polr3h
RNA polymerase III subunit H
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
G
Rangap1
RAN GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:122,939,266...122,967,178
Ensembl chr 7:122,940,376...122,967,178
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Septin3
septin 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,506,535...123,526,542
Ensembl chr 7:123,510,804...123,526,542
G
Shisa8
shisa family member 8
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,440,163...123,445,613
Ensembl chr 7:123,440,163...123,445,613
G
Snu13
small nuclear ribonucleoprotein 13
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,282,754...123,287,721
Ensembl chr 7:123,282,754...123,287,721
G
Srebf2
sterol regulatory element binding transcription factor 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
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Tef
TEF transcription factor, PAR bZIP family member
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,033,971...123,058,606
Ensembl chr 7:123,043,503...123,058,604
G
Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
OMIM ClinVar
PMID:19666484 PMID:21041452 PMID:25741868 PMID:28492532
NCBI chr 7:123,453,799...123,456,289
Ensembl chr 7:123,453,788...123,456,268
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Tob2
transducer of ERBB2, 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,079,520...123,088,240
Ensembl chr 7:123,079,537...123,088,279
G
Wbp2nl
WBP2 N-terminal like
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,531,657...123,548,574
Ensembl chr 7:123,531,682...123,548,081
G
Xrcc6
X-ray repair cross complementing 6
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:123,259,881...123,280,613
Ensembl chr 7:123,259,761...123,280,612
G
Zc3h7b
zinc finger CCCH-type containing 7B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:122,978,999...123,027,166
Ensembl chr 7:122,979,021...123,027,150
G
Ms4a1
membrane spanning 4-domains A1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 5
OMIM ClinVar
PMID:25741868
NCBI chr 1:227,429,241...227,441,492
Ensembl chr 1:227,429,596...227,441,442
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Cd81
Cd81 molecule
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 6 ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 6
OMIM ClinVar
PMID:20237408 PMID:25741868
NCBI chr 1:216,237,663...216,253,460
Ensembl chr 1:216,237,697...216,253,311
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Cr2
complement C3d receptor 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 7
ClinVar OMIM
PMID:22035880 PMID:24033266 PMID:25741868 PMID:26325596 PMID:28492532 PMID:29867916
NCBI chr13:113,890,274...113,927,824
Ensembl chr13:113,890,272...113,927,877
G
Lrba
LPS responsive beige-like anchor protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity
OMIM ClinVar
PMID:22608502 PMID:24033266 PMID:25468195 PMID:25741868 PMID:25931386 PMID:26206937 PMID:26768763 PMID:27379089 PMID:28197149 PMID:28473463 PMID:28492532 PMID:29867916 PMID:30363934 PMID:31876783
NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495
G
Mab21l2
mab-21 like 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity
ClinVar
PMID:28492532
NCBI chr 2:185,849,749...185,852,833
Ensembl chr 2:185,850,232...185,852,759
G
Hyou1
hypoxia up-regulated 1
ISO
ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality
OMIM ClinVar
PMID:27913302
NCBI chr 8:48,699,796...48,711,912
Ensembl chr 8:48,699,769...48,711,910
G
Sh3kbp1
SH3 domain-containing kinase-binding protein 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia X-linked type 2
OMIM ClinVar
PMID:29636373
NCBI chr X:37,790,004...38,196,365
Ensembl chr X:37,790,586...38,196,204
G
Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar Annotator: match by term: IGHD III ClinVar Annotator: match by OMIM:307200
OMIM ClinVar
PMID:3486747 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: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:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10737994 PMID:10844531 PMID:10859027 PMID:11206059 PMID:11410123 PMID:11438999 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11668622 PMID:11742281 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:14974089 PMID:15661032 PMID:16159644 PMID:16297664 PMID:16712653 PMID:16862044 PMID:16943681 PMID:16951917 PMID:17045652 PMID:17327079 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:21039741 PMID:21520333 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24586880 PMID:24869598 PMID:24885015 PMID:25082755 PMID:25189416 PMID:25270678 PMID:25741868 PMID:25777788 PMID:26915675 PMID:27199251 PMID:27512878 PMID:27577878 PMID:27593100 PMID:27980540 PMID:28049639 PMID:28212557 PMID:28359783 PMID:28398200 PMID:28418267 PMID:28492532 PMID:29424453 PMID:29496671 PMID:29503650 PMID:29875397 PMID:30018078 PMID:30072168 PMID:30290665 PMID:30311057 PMID:30564228
NCBI chr X:105,360,922...105,390,580
Ensembl chr X:105,360,922...105,390,580
G
Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1 ClinVar Annotator: match by term: Hypoagammaglobulinemia, X-linked ClinVar Annotator: match by OMIM:300755 DNA:mutations:exon, intron:multiple
OMIM ClinVar
PMID:2896233 PMID:4697357 PMID:7554467 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162056 PMID:8164701 PMID:8164707 PMID:8380905 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10678660 PMID:10737994 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:15661032 PMID:16160918 PMID:16712653 PMID:16751014 PMID:16862044 PMID:16951917 PMID:17045652 PMID:17164954 PMID:17327079 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:21397315 PMID:24001798 PMID:24033266 PMID:24820629 PMID:24885015 PMID:25741868 PMID:26915675 PMID:27512878 PMID:27577878 PMID:28492532 PMID:29424453 PMID:29503650 PMID:30072168 PMID:30564228 PMID:30627929 , PMID:12655572 , PMID:15024743
RGD:11040698 , RGD:11040588
NCBI chr X:105,360,922...105,390,580
Ensembl chr X:105,360,922...105,390,580
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISS
OMIM:300310 | OMIM:300755
MouseDO
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
G
Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by null
ClinVar
PMID:8758136
NCBI chr X:105,360,922...105,390,580
Ensembl chr X:105,360,922...105,390,580
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16123
syndrome
7053
primary immunodeficiency disease
2373
lymphoproliferative syndrome
681
agammaglobulinemia
63
Achondroplasia and Swiss Type Agammaglobulinemia
0
Agammaglobulinemia 1, Autosomal Recessive
2
Agammaglobulinemia 2, Autosomal Recessive
0
Agammaglobulinemia 3, Autosomal Recessive
1
Agammaglobulinemia 6, Autosomal Recessive
1
Agammaglobulinemia 7, Autosomal Recessive
1
Agammaglobulinemia 8, Autosomal Dominant
1
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
0
Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant
0
Agammaglobulinemia, non-Bruton type
0
Frenkel Russe Syndrome
0
Good syndrome
0
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
0
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
0
Say Barber Miller Syndrome
0
X-Linked Hypogammaglobulinemia
1
X-linked agammaglobulinemia +
3
adenosine deaminase deficiency
3
agammaglobulinemia 4
2
agammaglobulinemia 5
1
autosomal recessive osteopetrosis 7
1
common variable immunodeficiency +
48
immunodeficiency 59
1
isolated growth hormone deficiency type III
1
transient hypogammaglobulinemia +
0
Path 2
disease
16123
disease of anatomical entity
15370
Immune & Inflammatory Diseases
3585
immune system disease
2954
Immunoproliferative Disorders
690
lymphoproliferative syndrome
681
agammaglobulinemia
63
Achondroplasia and Swiss Type Agammaglobulinemia
0
Agammaglobulinemia 1, Autosomal Recessive
2
Agammaglobulinemia 2, Autosomal Recessive
0
Agammaglobulinemia 3, Autosomal Recessive
1
Agammaglobulinemia 6, Autosomal Recessive
1
Agammaglobulinemia 7, Autosomal Recessive
1
Agammaglobulinemia 8, Autosomal Dominant
1
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
0
Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant
0
Agammaglobulinemia, non-Bruton type
0
Frenkel Russe Syndrome
0
Good syndrome
0
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
0
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
0
Say Barber Miller Syndrome
0
X-Linked Hypogammaglobulinemia
1
X-linked agammaglobulinemia +
3
adenosine deaminase deficiency
3
agammaglobulinemia 4
2
agammaglobulinemia 5
1
autosomal recessive osteopetrosis 7
1
common variable immunodeficiency +
48
immunodeficiency 59
1
isolated growth hormone deficiency type III
1
transient hypogammaglobulinemia +
0