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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
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Accession:DOID:620 term browser 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;   RDO:0004777
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
blood protein disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
Acquired Protein C Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr 1:158,250,421...158,251,832 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 synonym: SCID due to ADA deficiency, delayed onset
ClinVar Annotator: match by OMIM:102700
OMIM
ClinVar
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
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 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:11133745 PMID:21664875 PMID:24290284 PMID:24406074 PMID:25741868 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Hypogammaglobulinemia ClinVar PMID:25741868 PMID:28782633 NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
JBrowse link
G 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
JBrowse link
Agammaglobulinemia 1, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935
JBrowse link
Agammaglobulinemia 2, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora2a adenosine A2a receptor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
JBrowse link
G Cabin1 calcineurin binding protein 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,893,314...13,015,357
Ensembl chr20:12,893,358...13,015,357
JBrowse link
G 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
JBrowse link
G Ddt D-dopachrome tautomerase ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,884,216...12,886,687
Ensembl chr20:12,884,243...12,888,482
JBrowse link
G 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
JBrowse link
G Ggt5 gamma-glutamyltransferase 5 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,043,255...13,071,523 JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Gstt2 glutathione S-transferase, theta 2 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,819,617...12,823,288
Ensembl chr20:12,819,170...12,823,288
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G RGD1564162 similar to Homo sapiens fetal lung specific expression unknown ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,721,738...12,725,864
Ensembl chr20:12,723,160...12,726,059
JBrowse link
G 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
JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
JBrowse link
G Susd2 sushi domain containing 2 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,017,468...13,024,903
Ensembl chr20:13,017,477...13,024,903
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590
JBrowse link
G Vpreb3 V-set pre-B cell surrogate light chain 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,717,475...12,718,785
Ensembl chr20:12,716,779...12,719,520
JBrowse link
Agammaglobulinemia 3, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:10525050 PMID:11920841 PMID:17576681 PMID:24728327 More... NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935
JBrowse link
agammaglobulinemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
G Blnk B-cell linker ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar Annotator: match by OMIM:613502
OMIM
ClinVar
PMID:9536098 PMID:10583958 PMID:17576681 PMID:24033266 PMID:24582315 More... NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
JBrowse link
G 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 JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,414,004...239,425,319 JBrowse link
G Zfp518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:10583958 PMID:24582315 PMID:28492532 NCBI chr 1:239,719,305...239,744,978
Ensembl chr 1:239,719,505...239,744,979
JBrowse link
agammaglobulinemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant OMIM
ClinVar
PMID:14660746 PMID:25741868 PMID:28492532 NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
JBrowse link
Agammaglobulinemia 6, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:24033266 PMID:24728327 PMID:25741868 More... NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
JBrowse link
Agammaglobulinemia 7, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive OMIM
ClinVar
PMID:22351933 PMID:25133428 PMID:28492532 NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
Agammaglobulinemia 8, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
JBrowse link
Analbuminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO ClinVar Annotator: match by term: Analbuminemia
ClinVar Annotator: match by term: Analbuminemia baghdad
ClinVar Annotator: match by OMIM:616000
OMIM
ClinVar
PMID:3353369 PMID:7937781 PMID:8134387 PMID:9266687 PMID:11781148 More... NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
Anhaptoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hp haptoglobin ISO ClinVar Annotator: match by OMIM:614081
ClinVar Annotator: match by term: Anhaptoglobinemia
ClinVar
OMIM
PMID:9463309 PMID:10644822 PMID:10666182 PMID:14616769 PMID:14999562 More... NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Txnl4b thioredoxin-like 4B ISO ClinVar Annotator: match by term: Anhaptoglobinemia ClinVar PMID:9463309 PMID:14616769 PMID:14999562 PMID:25741868 NCBI chr19:37,530,157...37,539,827
Ensembl chr19:37,530,152...37,538,521
JBrowse link
antithrombin III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinc1 serpin family C member 1 susceptibility ISO ClinVar Annotator: match by term: Antithrombin deficiency
ClinVar Annotator: match by term: Antithrombin III deficiency
ClinVar Annotator: match by term: Reduced antithrombin III activity
ClinVar Annotator: match by OMIM:613118
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombophilia due to antithrombin III deficiency
ClinVar Annotator: match by term: Antithrombin deficiency, UMLS OMIM term: THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
ClinVar Annotator: match by null
ClinVar
CTD
OMIM
RGD
PMID:1325679 PMID:1421387 PMID:1469094 PMID:1483705 PMID:1483709 More... RGD:1599321 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
JBrowse link
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia
ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
ClinVar Annotator: match by OMIM:208920
OMIM
ClinVar
RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 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
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:16199547 PMID:20118933 PMID:24033266 PMID:25728773 PMID:25741868 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:32488064 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcd protein kinase C, delta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar
PMID:9536098 PMID:11976687 PMID:17576681 PMID:23319571 PMID:23430113 More... NCBI chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352
JBrowse link
G 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
JBrowse link
autosomal dominant thrombophilia due to protein C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant ClinVar
OMIM
PMID:1301954 PMID:1301959 PMID:1347608 PMID:1464619 PMID:1469096 More... NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
autosomal dominant thrombophilia due to protein S deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Reduced protein S activity ClinVar PMID:32581362 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Reduced protein S activity ClinVar PMID:32581362 NCBI chr11:37,490,832...37,575,607 JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant
ClinVar Annotator: match by term: Reduced protein S activity
OMIM
ClinVar
PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 More... NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Reduced protein S activity ClinVar PMID:32581362 NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191
JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:25741868 PMID:28492532 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
JBrowse link
autosomal recessive thrombophilia due to protein C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
ClinVar Annotator: match by OMIM:612304
OMIM
ClinVar
PMID:1347608 PMID:1347706 PMID:1348046 PMID:1511988 PMID:1593215 More... NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
autosomal recessive thrombophilia due to protein S deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:28492532 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive
ClinVar Annotator: match by OMIM:614514
OMIM
ClinVar
PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2526663 More... NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:28492532 NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191
JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:308230
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)
ClinVar
RGD
CTD
OMIM
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
JBrowse link
G 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
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd68 Cd68 molecule ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G 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
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
JBrowse link
G Clec10a C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
JBrowse link
G Cr2 complement C3d receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
JBrowse link
G 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
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,384,345...54,389,853
Ensembl chr10:54,384,347...54,389,858
JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906
JBrowse link
G Fcgr2a Fc gamma receptor IIa 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
JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062
JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964
JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,714,834...54,717,769
Ensembl chr10:54,714,198...54,717,765
JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097
JBrowse link
G Icos inducible T-cell co-stimulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
JBrowse link
G 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
JBrowse link
G Il21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G 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
JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760
JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
JBrowse link
G 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 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G Mir195 microRNA 195 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
JBrowse link
G 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
JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
JBrowse link
G 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 PMID:32278790 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G 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 More... NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,544,588...54,557,854
Ensembl chr10:54,544,588...54,558,434
JBrowse link
G 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
JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,718,608...54,722,784
Ensembl chr10:54,717,724...54,722,782
JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709
JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 More... NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
JBrowse link
G RGD1308134 similar to RIKEN cDNA 1110020A23 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601
JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,954,904...54,956,622 JBrowse link
G 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
JBrowse link
G Sat2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,340,756...54,343,507
Ensembl chr10:54,340,372...54,343,224
JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593
JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
JBrowse link
G Slc16a11 solute carrier family 16, member 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915
JBrowse link
G Slc16a13 solute carrier family 16, member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
JBrowse link
G Slc35g3 solute carrier family 35, member G3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,373,602...54,376,591
Ensembl chr10:54,372,403...54,376,591
JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131
JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058
JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572
JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,523,901...54,525,999
Ensembl chr10:54,523,585...54,525,990
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by OMIM:240500
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset
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 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
G 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 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:28492532 NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213
JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892
JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:56,917,284...56,929,791
Ensembl chr10:56,917,121...56,929,770
JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492
JBrowse link
Common Variable Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 1 ClinVar PMID:11343122 PMID:12577056 PMID:19380800 PMID:28492532 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G 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:9536098 PMID:11343122 PMID:12577056 PMID:15507387 PMID:17576681 More... NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 1 ClinVar PMID:24140114 NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
Common Variable Immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 10 OMIM
ClinVar
PMID:9536098 PMID:16303288 PMID:17576681 PMID:22013103 PMID:24033266 More... NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
JBrowse link
Common Variable Immunodeficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21 interleukin 21 ISO ClinVar Annotator: match by OMIM:615767
ClinVar Annotator: match by term: Common variable immunodeficiency 11
ClinVar
OMIM
PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
Common Variable Immunodeficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:27365489 More... NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G 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
JBrowse link
Common Variable Immunodeficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
JBrowse link
Common Variable Immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf2bp2 interferon regulatory factor 2 binding protein 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 14
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
OMIM
PMID:25741868 PMID:27016798 PMID:28492532 NCBI chr19:54,559,409...54,564,714 JBrowse link
Common Variable Immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:25741868 NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Common variable immunodeficiency 2
ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY
OMIM
ClinVar
PMID:8072530 PMID:9536098 PMID:15077010 PMID:16007086 PMID:16007087 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
JBrowse link
Common Variable Immunodeficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
JBrowse link
Common Variable Immunodeficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050
JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,748,026...113,759,296
Ensembl chr 7:113,747,516...113,764,258
JBrowse link
G Csdc2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,451,998...113,466,464
Ensembl chr 7:113,451,998...113,466,463
JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,519,974...113,542,834
Ensembl chr 7:113,519,980...113,542,845
JBrowse link
G LOC688613 hypothetical protein LOC688613 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,765,468...113,773,339
Ensembl chr 7:113,765,468...113,773,339
JBrowse link
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 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511
JBrowse link
G Mir33 microRNA 33 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,713,855...113,713,923
Ensembl chr 7:113,713,855...113,713,923
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,378,469...113,385,035
Ensembl chr 7:113,378,471...113,385,460
JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,783,217...113,811,089
Ensembl chr 7:113,783,095...113,811,087
JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,722,408...113,727,858
Ensembl chr 7:113,722,408...113,727,858
JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,565,903...113,570,871
Ensembl chr 7:113,565,295...113,570,872
JBrowse link
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 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
JBrowse link
G 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 7:113,317,191...113,341,783
Ensembl chr 7:113,317,283...113,341,783
JBrowse link
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 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688
JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333
JBrowse link
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 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762
JBrowse link
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 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399
JBrowse link
Common Variable Immunodeficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ms4a1 membrane spanning 4-domains A1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 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
JBrowse link
Common Variable Immunodeficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 PMID:28492532 NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
JBrowse link
Common Variable Immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:22035880 PMID:24033266 PMID:25741868 More... NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
JBrowse link
Common Variable Immunodeficiency 8, with Autoimmunity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:26206937 PMID:26768763 PMID:28492532 NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655
JBrowse link
Congenital Thrombotic Disease, due to Protein C Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:25748729 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Tslp thymic stromal lymphopoietin ISS MouseDO NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G 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
JBrowse link
dysgammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand ISO Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230 RGD PMID:7678782 RGD:1599480 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G 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
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
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
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
OMIM
ClinVar
RGD
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc gamma receptor IIIa 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
JBrowse link
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar Annotator: match by term: Job syndrome
ClinVar
OMIM
RGD
PMID:4161105 PMID:9536098 PMID:17576681 PMID:17676033 PMID:17881745 More... RGD:6892956 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutation:cds: OMIM
RGD
PMID:21763205 RGD:40907054 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
hyper IgE recurrent infection syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp341 zinc finger protein 341 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive
ClinVar
OMIM
PMID:25741868 PMID:29907690 PMID:29907691 NCBI chr 3:143,122,699...143,156,250 JBrowse link
hyper IgE recurrent infection syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hyper-ige recurrent infection syndrome 4, autosomal recessive
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:28747427 PMID:30309848 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
JBrowse link
hyper IgE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H9orf66 chromosome 1 open reading frame, human C9orf66 ISO ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar PMID:14722525 PMID:19776401 PMID:20226292 PMID:22476911 PMID:24797421 More...
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by OMIM:243700
ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
CTD
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 8:87,517,931...87,536,034
Ensembl chr 8:87,517,701...87,536,022
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar Annotator: match by term: Hyperimmunoglobulin E syndrome
CTD
ClinVar
PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 More... NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM
CTD
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
JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM
CTD
ClinVar
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Hyper IgM syndrome ClinVar PMID:9746782 PMID:10484640 PMID:15358621 PMID:17351759 PMID:19575287 More... NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Ung uracil-DNA glycosylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM
CTD
ClinVar
NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
JBrowse link
Hyper-IgE Recurrent Infection Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive
ClinVar
OMIM
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
JBrowse link
Hypergammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
Hypergastrinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
hyperimmunoglobulin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
Hypoalbuminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Hypoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar Annotator: match by term: Tyrosine kinase 2 deficiency
ClinVar Annotator: match by OMIM:611521
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17088085 PMID:17576681 PMID:21680795 More... NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality OMIM
ClinVar
PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747
JBrowse link
immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3
ClinVar
OMIM
PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 More... NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
immunodeficiency with hyper IgM type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Ung uracil-DNA glycosylase ISO ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5
ClinVar
OMIM
PMID:9536098 PMID:12958596 PMID:15967827 PMID:17029639 PMID:17576681 More... NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
JBrowse link
immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 2
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
ClinVar
OMIM
PMID:9536098 PMID:11007475 PMID:11112359 PMID:12910268 PMID:14769937 More... NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Clec4a C-type lectin domain family 4, member A ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 4:156,340,439...156,434,212
Ensembl chr 4:156,414,688...156,432,402
JBrowse link
G 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...156,598,969
Ensembl chr 4:156,589,792...156,598,848
JBrowse link
G 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
JBrowse link
Immunoglobulin A Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Immunoglobulin A deficiency 2
ClinVar Annotator: match by term: IgA, selective deficiency of, TACI related
ClinVar Annotator: match by OMIM:609529
OMIM
ClinVar
PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
immunoglobulin alpha deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27723758 NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011 PMID:27723758 NCBI chr10:4,927,804...5,123,749
Ensembl chr10:4,928,030...5,123,578
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Pvt1 Pvt1 oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:27723758 NCBI chr 7:93,656,249...93,879,938 JBrowse link
G 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
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISS OMIM:137100 | OMIM:269650 | OMIM:609529 MouseDO NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
Kininogen Deficiency, High Molecular Weight and Low Molecular Weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
mevalonic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:7780142 RGD:9585642 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G 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
JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D
ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,496
Ensembl chr12:42,159,089...42,172,490
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Periodic fever Dutch type
ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar Annotator: match by term: Mevalonate kinase deficiency
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:260920
ClinVar Annotator: match by OMIM:610377
OMIM
ClinVar
CTD
PMID:1377680 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 More... NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G 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
JBrowse link
monoclonal gammopathy of uncertain significance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
multiple myeloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Arid4a AT-rich interaction domain 4A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:89,522,463...89,593,868
Ensembl chr 6:89,522,442...89,593,510
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:26619011 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bap1 Brca1 associated protein 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
JBrowse link
G 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
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr13:22,689,783...22,853,920 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: Multiple myeloma, translocation 11,14 type
CTD Direct Evidence: marker/mechanism
DNA:snp:exon:c.870G>A (rs603965) (human)
ClinVar
CTD
OMIM
RGD
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... RGD:1581171, RGD:11353784 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Cd40lg CD40 ligand treatment
disease_progression
ISO protein:increased expression:serum (human) RGD PMID:15565183 PMID:27243341 PMID:22403003 RGD:11352240, RGD:11352268, RGD:11352251 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:plasma cell (human) RGD PMID:16728275 RGD:11352814 NCBI chr13:106,575,586...106,606,325 JBrowse link
G 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
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ephx1 epoxide hydrolase 1 no_association
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:rs2234922 (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
CTD
RGD
PMID:16949155 PMID:19736056 PMID:24521996 PMID:16949155 RGD:11252116, RGD:11252122, RGD:11252121 NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
JBrowse link
G 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
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression ISO DNA:polymorphism: :p.K751Q (rs13181) (human) RGD PMID:22183071 RGD:11252199 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Fcgr2a Fc gamma receptor IIa 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
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma
CTD
ClinVar
PMID:1908846 PMID:7773297 PMID:8858131 PMID:9207791 PMID:9677066 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G 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
JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Gstp1 glutathione S-transferase pi 1 disease_progression
treatment
no_association
ISO DNA:polymorphism: :
DNA:polymorphism:cds:p.I105V(human)
RGD PMID:23953887 PMID:17512053 PMID:18061666 RGD:10755413, RGD:11075094, RGD:10755419 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G 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
JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:41,486,634...41,487,293
Ensembl chr17:41,486,560...41,487,403
JBrowse link
G H3c1 H3 clustered histone 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:41,367,824...41,368,902 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Hk1 hexokinase 1 ISO RGD PMID:19996089 RGD:11353882 NCBI chr20:30,230,488...30,332,161
Ensembl chr20:30,230,486...30,332,131
JBrowse link
G Hras HRas proto-oncogene, GTPase 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 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Myelomatosis
ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Myelomatosis
ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21889589 PMID:22160010 More... NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)
RGD PMID:25469832 PMID:1777241 PMID:17926179 RGD:11049156, RGD:11059513, RGD:11051973 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Irf4 interferon regulatory factor 4 treatment
disease_progression
ISO DNA:translocation
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18568025 PMID:10557056 PMID:21707574 PMID:17690696 RGD:11526161, RGD:11530055, RGD:11530019 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:25326635 PMID:25741868 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
RGD
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... RGD:1581756 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G 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
JBrowse link
G Lig4 DNA ligase 4 ISO DNA:polymorphisms
ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Multiple myeloma, resistance to
ClinVar
OMIM
RGD
PMID:12471202 PMID:24033266 PMID:25741868 PMID:28492532 PMID:12471202 RGD:1600305 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
JBrowse link
G 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 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Mefv MEFV innate immuity 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:108,596,100...108,611,389
Ensembl chr 8:108,597,299...108,612,455
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Muc1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:9949172 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:26619011 PMID:28492532 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 no_association ISO DNA:missense mutation:cds:p.P187S (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P187S (609C>T) (human)
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
JBrowse link
G Nras NRAS proto-oncogene, GTPase treatment ISO DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
RGD
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... RGD:11535049 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:26619011 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Pon1 paraoxonase 1 severity
susceptibility
treatment
ISO protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.Q192R (human)
RGD PMID:25520116 PMID:15136237 PMID:22348216 RGD:11552578, RGD:10450846, RGD:11040544 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator 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
JBrowse link
G 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
JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr20:3,202,572...3,203,560
Ensembl chr20:3,202,174...3,203,599
JBrowse link
G 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
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Myelomatosis
ClinVar PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G 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
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
JBrowse link
G 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
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b treatment ISO RGD PMID:16531263 RGD:11038719 NCBI chr15:44,839,818...44,867,582 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
JBrowse link
G Tp53 tumor protein p53 disease_progression
treatment
ISO DNA:polymorphism:cds:p.R72P(human)
ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma
DNA:deletion: :
protein:increased expression:nucleus:
ClinVar
RGD
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... RGD:11073716, RGD:11075073, RGD:11073728 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Xrcc5 X-ray repair cross complementing 5 susceptibility ISO DNA:SNP:3'-UTR (human) RGD PMID:17901044 RGD:8698655 NCBI chr 9:73,955,220...74,044,020
Ensembl chr 9:73,955,216...74,044,018
JBrowse link
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
JBrowse link
Paraproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1908846 PMID:7773297 PMID:8858131 PMID:9677066 PMID:10073901 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
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 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
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 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21889589 PMID:22160010 More... NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
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 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
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 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
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 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:26619011 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
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 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930