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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
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
Ensembl chr 1:158,120,200...158,252,012 		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 Acot8 acyl-CoA thioesterase 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,531,192...153,542,851
Ensembl chr 3:153,531,193...153,542,851 		JBrowse link
G Ada adenosine deaminase ISO
ISS		 ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
OMIM:102700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 OMIM
ClinVar
MouseDO
CTD		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Ccn5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,491,247...152,502,639
Ensembl chr 3:152,491,220...152,502,636 		JBrowse link
G Cd247 Cd247 molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More... NCBI chr13:78,043,302...78,118,437
Ensembl chr13:78,043,307...78,122,263 		JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147 		JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cdh22 cadherin 22 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,845,563...153,970,630
Ensembl chr 3:153,845,787...153,970,588 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215 		JBrowse link
G Dbndd2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,216,300...153,220,651
Ensembl chr 3:153,191,090...153,220,651 		JBrowse link
G Dnttip1 deoxynucleotidyltransferase, terminal, interacting protein 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,481,718...153,505,403
Ensembl chr 3:153,481,705...153,505,759 		JBrowse link
G Elmo2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:154,023,661...154,061,259
Ensembl chr 3:154,023,661...154,061,185 		JBrowse link
G Eppin epididymal peptidase inhibitor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,312,396...153,319,310
Ensembl chr 3:153,312,396...153,319,310 		JBrowse link
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858 		JBrowse link
G Gdap1l1 ganglioside-induced differentiation-associated protein 1-like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,110,225...152,129,693
Ensembl chr 3:152,110,253...152,128,711 		JBrowse link
G Gtsf1l gametocyte specific factor 1-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:151,736,020...151,738,715
Ensembl chr 3:151,735,997...151,736,863 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904 		JBrowse link
G Kcnk15 potassium two pore domain channel subfamily K member 15 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,515,237...152,521,455
Ensembl chr 3:152,515,237...152,521,455 		JBrowse link
G Kcns1 potassium voltage-gated channel, modifier subfamily S, member 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,835,642...152,843,032
Ensembl chr 3:152,835,644...152,842,960 		JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mybl2 MYB proto-oncogene like 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708 		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 Ncoa5 nuclear receptor coactivator 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,736,420...153,769,838
Ensembl chr 3:153,736,420...153,769,553 		JBrowse link
G Neurl2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,566,659...153,569,380
Ensembl chr 3:153,566,660...153,569,380 		JBrowse link
G Ocstamp osteoclast stimulatory transmembrane protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:154,131,113...154,141,611
Ensembl chr 3:154,132,328...154,136,991 		JBrowse link
G Oser1 oxidative stress responsive serine-rich 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,066,975...152,085,180
Ensembl chr 3:152,066,975...152,085,149 		JBrowse link
G Pabpc1l poly(A) binding protein, cytoplasmic 1-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,692,825...152,725,997
Ensembl chr 3:152,693,700...152,725,997 		JBrowse link
G Pcif1 phosphorylated CTD interacting factor 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,614,147...153,627,079
Ensembl chr 3:153,614,147...153,627,079 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887 		JBrowse link
G Pkig cAMP-dependent protein kinase inhibitor gamma ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,330,477...152,398,085
Ensembl chr 3:152,366,041...152,398,082 		JBrowse link
G Pltp phospholipid transfer protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647 		JBrowse link
G R3hdml R3H domain containing-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,171,382...152,182,151
Ensembl chr 3:152,171,382...152,182,151 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 ClinVar PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
G Rbpjl recombination signal binding protein for immunoglobulin kappa J region-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,134,044...153,147,421
Ensembl chr 3:153,134,140...153,146,513 		JBrowse link
G Rims4 regulating synaptic membrane exocytosis 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,520,982...152,585,070
Ensembl chr 3:152,524,095...152,584,780 		JBrowse link
G Sdc4 syndecan 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580 		JBrowse link
G Semg1 semenogelin 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,910,033...152,912,882
Ensembl chr 3:152,910,034...152,912,882 		JBrowse link
G Serinc3 serine incorporator 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,301,882...152,321,327
Ensembl chr 3:152,301,772...152,321,808 		JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,696,517...153,735,801
Ensembl chr 3:153,696,517...153,735,765 		JBrowse link
G Slc13a3 solute carrier family 13 member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:154,141,878...154,204,604
Ensembl chr 3:154,141,872...154,204,606 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690 		JBrowse link
G Slc35c2 solute carrier family 35 member C2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:154,012,262...154,023,549
Ensembl chr 3:154,012,416...154,023,488 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453 		JBrowse link
G Snx21 sorting nexin family member 21 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,522,474...153,532,235
Ensembl chr 3:153,522,486...153,532,221 		JBrowse link
G Spata25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,562,479...153,566,508
Ensembl chr 3:153,562,528...153,564,480 		JBrowse link
G Spint3 serine peptidase inhibitor, Kunitz type, 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,293,969...153,296,717
Ensembl chr 3:153,294,010...153,296,779 		JBrowse link
G Spint4 serine peptidase inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,430,633...153,432,821
Ensembl chr 3:153,430,633...153,433,439 		JBrowse link
G Stk4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,745,958...152,827,747
Ensembl chr 3:152,745,681...152,827,744 		JBrowse link
G Sys1 Sys1 golgi trafficking protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,191,061...153,195,463
Ensembl chr 3:153,191,090...153,220,651 		JBrowse link
G Tnnc2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,513,272...153,516,033
Ensembl chr 3:153,513,271...153,516,029 		JBrowse link
G Tomm34 translocase of outer mitochondrial membrane 34 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,729,345...152,746,295
Ensembl chr 3:152,729,349...152,746,373 		JBrowse link
G Tox2 TOX high mobility group box family member 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:151,853,294...151,980,086
Ensembl chr 3:151,853,294...151,980,749 		JBrowse link
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328 		JBrowse link
G Tp53tg5 TP53 target 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,200,792...153,204,337
Ensembl chr 3:153,200,789...153,204,349 		JBrowse link
G Ttpal alpha tocopherol transfer protein like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,278,246...152,296,550
Ensembl chr 3:152,278,303...152,296,513 		JBrowse link
G Ube2c ubiquitin-conjugating enzyme E2C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,506,636...153,509,036
Ensembl chr 3:153,506,636...153,513,339 		JBrowse link
G Wfdc10a WAP four-disulfide core domain 10A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,390,067...153,391,420
Ensembl chr 3:153,390,067...153,391,420 		JBrowse link
G Wfdc11 WAP four-disulfide core domain 11 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,397,585...153,406,407 JBrowse link
G Wfdc12 WAP four-disulfide core domain 12 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,861,461...152,862,784
Ensembl chr 3:152,862,341...152,862,690 		JBrowse link
G Wfdc13 WAP four-disulfide core domain 13 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,419,553...153,421,306
Ensembl chr 3:153,419,648...153,421,221 		JBrowse link
G Wfdc2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807 		JBrowse link
G Wfdc3 WAP four-disulfide core domain 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,464,862...153,478,952
Ensembl chr 3:153,464,862...153,478,952 		JBrowse link
G Wfdc5 WAP four-disulfide core domain 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,849,025...152,854,868
Ensembl chr 3:152,849,025...152,854,904 		JBrowse link
G Wfdc6a WAP four-disulfide core domain 6A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,305,336...153,309,144
Ensembl chr 3:153,305,336...153,309,144 		JBrowse link
G Wfdc8 WAP four-disulfide core domain 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,323,503...153,339,849
Ensembl chr 3:153,324,413...153,339,842 		JBrowse link
G Wfdc9 WAP four-disulfide core domain 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,380,554...153,389,055
Ensembl chr 3:153,380,649...153,391,261 		JBrowse link
G Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:152,659,663...152,682,105
Ensembl chr 3:152,659,651...152,682,105 		JBrowse link
G Zfp334 zinc finger protein 334 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:154,112,537...154,125,087
Ensembl chr 3:154,113,561...154,125,057 		JBrowse link
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054 		JBrowse link
G Zswim1 zinc finger, SWIM-type containing 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,559,104...153,562,821
Ensembl chr 3:153,558,970...153,562,915 		JBrowse link
G Zswim3 zinc finger, SWIM-type containing 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 3:153,542,741...153,558,022
Ensembl chr 3:153,542,743...153,558,018 		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 1:80,493,581...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 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 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 PMID:28492532 NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935 		JBrowse link
agammaglobulinemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:33951726 NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393 		JBrowse link
agammaglobulinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h22orf15 similar to human chromosome 22 open reading frame 15 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,723,160...12,725,864
Ensembl chr20:12,723,160...12,726,059 		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 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 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 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 Vpreb3 V-set pre-B cell surrogate light chain 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,717,421...12,718,785
Ensembl chr20:12,716,779...12,719,520 		JBrowse link
agammaglobulinemia 3 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, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 More... NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508 		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...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
G Blnk B-cell linker ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 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
Ensembl chr 1:239,561,987...239,682,416 		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 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272 		JBrowse link
G Zfp518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:25741868 More... 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, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202 		JBrowse link
agammaglobulinemia 6 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, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
agammaglobulinemia 7 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, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive OMIM
ClinVar		 PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25488983 More... NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
Agammaglobulinemia 8 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: TCF3-related condition ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34618307 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
agammaglobulinemia 8A 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 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 More... NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
agammaglobulinemia 8B 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, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
agammaglobulinemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30718914 NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537 		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 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 Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Anhaptoglobinemia ClinVar PMID:25741868 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Hp haptoglobin ISO ClinVar Annotator: match by term: AHAPTOGLOBINEMIA | ClinVar Annotator: match by term: Anhaptoglobinemia OMIM
ClinVar		 PMID:9463309 PMID:10644822 PMID:10666182 PMID:14616769 PMID:14999562 More... NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
antithrombin III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,424,766...73,450,466
Ensembl chr13:73,424,480...73,450,466 		JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177 		JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114 		JBrowse link
G Cop1 COP1, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:71,467,164...71,561,826
Ensembl chr13:71,429,961...71,538,890 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934 		JBrowse link
G Gas5 growth arrest specific 5 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,303,611...73,306,932 JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,800,265...72,804,989
Ensembl chr13:72,800,127...72,806,180 		JBrowse link
G Kiaa0040 KIAA0040 ortholog ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,274,519...72,312,103
Ensembl chr13:72,274,552...72,312,103 		JBrowse link
G Klhl20 kelch-like family member 20 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,363,451...73,408,293
Ensembl chr13:73,363,455...73,408,337 		JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915 		JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355 		JBrowse link
G Rabgap1l RAB GTPase activating protein 1-like ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984 		JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar PMID:3663935 PMID:10823268 PMID:16956830 PMID:21264449 PMID:24889358 More... NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839 		JBrowse link
G Scarna3 small Cajal body-specific RNA 3 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 6:99,222,432...99,222,521
Ensembl chr 6:99,222,432...99,222,521 		JBrowse link
G Serpinc1 serpin family C member 1 susceptibility ISO
ISS		 ClinVar Annotator: match by term: Hereditary antithrombin deficiency | ClinVar Annotator: match by term: Reduced antithrombin III activity
OMIM:613118
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1325679 PMID:1360174 PMID:1421387 PMID:1469094 PMID:1483705 More... RGD:1599321 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293 		JBrowse link
G Slc9c2 solute carrier family 9, member C2 (putative) ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,424,683...73,524,244
Ensembl chr13:73,451,115...73,524,239
Ensembl chr13:73,451,115...73,524,239 		JBrowse link
G Tex50 testis expressed 50 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,433,375...73,438,787
Ensembl chr13:73,433,384...73,438,792 		JBrowse link
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788 		JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,319,160...72,386,362
Ensembl chr13:72,319,155...72,408,156 		JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641 		JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124 		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: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)		 OMIM
ClinVar
CTD
RGD		 PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 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: Early-onset cerebellar ataxia with hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 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: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		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:16199547 PMID:17576681 PMID:23319571 More... NCBI chr16:5,769,217...5,799,380
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 Ammecr1l AMMECR1 like ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,386,114...23,411,177
Ensembl chr18:23,386,903...23,410,920 		JBrowse link
G Bin1 bridging integrator 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966 		JBrowse link
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683 		JBrowse link
G Iws1 interacts with SUPT6H, CTD assembly factor 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,695,496...23,737,363
Ensembl chr18:23,695,425...23,736,172 		JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,553,937...23,592,137
Ensembl chr18:23,553,937...23,592,137 		JBrowse link
G Map3k2 mitogen activated protein kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,807,218...23,879,722
Ensembl chr18:23,807,218...23,871,433 		JBrowse link
G Myo7b myosin VIIb ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,588,307...23,669,841
Ensembl chr18:23,588,307...23,669,809 		JBrowse link
G Polr2d RNA polymerase II subunit D ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,418,097...23,425,228
Ensembl chr18:23,418,097...23,425,228 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital protein C deficiency | ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant OMIM
ClinVar		 PMID:1301954 PMID:1301959 PMID:1347608 PMID:1464619 PMID:1469096 More... NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
G Sap130 Sin3A associated protein 130 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,244,337...23,345,368
Ensembl chr18:23,267,256...23,345,359 		JBrowse link
G Sft2d3 SFT2 domain containing 3 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,537,105...23,539,305
Ensembl chr18:23,537,105...23,539,305 		JBrowse link
G Uggt1 UDP-glucose glycoprotein glucosyltransferase 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 9:38,355,229...38,468,473
Ensembl chr 9:38,359,089...38,468,467 		JBrowse link
G Wdr33 WD repeat domain 33 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,432,233...23,535,460
Ensembl chr18:23,432,191...23,468,597 		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 Pros1 protein S ISO ClinVar Annotator: match by term: PROS1-related condition | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 More... NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... 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 due to protein C deficiency, autosomal recessive OMIM
ClinVar		 PMID:1301954 PMID:1301959 PMID:1347608 PMID:1347706 PMID:1348046 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:9241758 PMID:16363235 PMID:22627709 PMID:28492532 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: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543 		JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2521801 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:9241758 PMID:16363235 PMID:22627709 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 Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM ClinVar PMID:25741868 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)		 ClinVar
RGD
CTD
OMIM		 PMID:15611226 PMID:21841160 PMID:25741868 PMID:28492532 PMID:21841160 More... RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency ClinVar PMID:28492532 NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837 		JBrowse link
G Bacc1 BPTF associated chromatin complex component 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601 		JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:11472359 PMID:18241230 PMID:25741868 PMID:28492532 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		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:9150729 PMID:9746782 PMID:15358621 PMID:25741868 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd68 Cd68 molecule ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697 		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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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
ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781 		JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911 		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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,384,345...54,389,855
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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 2A ISO protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062 		JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Icos inducible T-cell co-stimulator ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:11590134 PMID:15229184 PMID:20529958 PMID:25741868 PMID:28993958 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		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
ClinVar Annotator: match by term: IL21 DEFICIENCY		 CTD
ClinVar		 PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		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 immunodeficiency 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 immunodeficiency 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 immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794 		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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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		 CTD
ClinVar		 PMID:16199547 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29477724 More... 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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency		 CTD
ClinVar
MouseDO		 PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 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 immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,544,461...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 immunodeficiency 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 immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,718,663...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 immunodeficiency 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 immunodeficiency 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 Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601 		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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131 		JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058 		JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572 		JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,523,901...54,525,997
Ensembl chr10:54,523,585...54,525,990 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447 		JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset		 CTD
ClinVar		 PMID:8072530 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive		 CTD
ClinVar		 PMID:28492532 NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517 		JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213 		JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042 		JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331 		JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32499645 More... 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 immunodeficiency 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 immunodeficiency 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 immunodeficiency ClinVar PMID:28492532 NCBI chr10:56,917,378...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 immunodeficiency 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 immunodeficiency 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 Abi2 abl-interactor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806 		JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462 		JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123 		JBrowse link
G Fam117b family with sequence similarity 117, member B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483 		JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781 		JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134 		JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 OMIM
ClinVar		 PMID:9536098 PMID:11343122 PMID:11956294 PMID:12353035 PMID:12577056 More... NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797 		JBrowse link
G Nbeal1 neurobeachin-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:24140114 PMID:28492532 NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810 		JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209 		JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469 		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: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 More... NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363 		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 term: Common variable immunodeficiency 11 OMIM
ClinVar		 PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		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-related condition OMIM
ClinVar		 PMID:9383370 PMID:11583829 PMID:16199547 PMID:16639407 PMID:25741868 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: IKZF1-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 OMIM
ClinVar		 PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:27993330 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 Arid4b AT-rich interaction domain 4B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:51,138,419...51,262,894
Ensembl chr17:51,138,535...51,262,906 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
G Gng4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254 		JBrowse link
G Irf2bp2 interferon regulatory factor 2 binding protein 2 ISO ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 PMID:35538558 NCBI chr19:54,559,417...54,565,096
Ensembl chr19:54,560,128...54,566,642 		JBrowse link
G Kcnk1 potassium two pore domain channel subfamily K member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:53,959,411...53,997,726
Ensembl chr19:53,959,657...53,997,724 		JBrowse link
G LOC120098679 small nucleolar RNA SNORA14 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:54,934,225...54,934,358
Ensembl chr19:54,934,225...54,934,358 		JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:86,085,133...86,158,272
Ensembl chr17:86,085,077...86,158,267 		JBrowse link
G Rbm34 RNA binding motif protein 34 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:54,936,516...54,956,810
Ensembl chr19:54,936,531...54,956,715 		JBrowse link
G Slc35f3 solute carrier family 35, member F3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:54,102,811...54,371,765
Ensembl chr19:54,103,120...54,372,839 		JBrowse link
G Tarbp1 TAR (HIV-1) RNA binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:54,398,268...54,449,293
Ensembl chr19:54,398,253...54,449,261 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198 		JBrowse link
Common Variable Immunodeficiency 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 ClinVar PMID:28782633 NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 OMIM
ClinVar		 PMID:25741868 PMID:28782633 NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Decreased circulating antibody concentration ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
common variable immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026 		JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597 		JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369 		JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642 		JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019 		JBrowse link
G Fbxw10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769 		JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970 		JBrowse link
G Gid4 GID complex subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,221,556...45,247,627
Ensembl chr10:45,245,754...45,247,621
Ensembl chr10:45,245,754...45,247,621 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056 		JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:44,453,949...44,573,843
Ensembl chr10:44,453,929...44,569,118 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013 		JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:44,578,536...44,581,187
Ensembl chr10:44,577,675...44,581,077 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232 		JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637 		JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811 		JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 OMIM
ClinVar		 PMID:8072530 PMID:9536098 PMID:16007086 PMID:16007087 PMID:16199547 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: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517 		JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559 		JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203 		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: Immunodeficiency, common variable, 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 A4galt alpha 1,4-galactosyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071 		JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050 		JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,748,026...113,759,296
Ensembl chr 7:113,747,516...113,764,258 		JBrowse link
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272 		JBrowse link
G Csdc2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,451,998...113,466,464
Ensembl chr 7:113,451,998...113,466,463 		JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,306,686...114,324,247
Ensembl chr 7:114,306,685...114,324,298 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,519,974...113,542,834
Ensembl chr 7:113,519,980...113,542,845 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489 		JBrowse link
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511 		JBrowse link
G Mir33 microRNA 33 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,713,855...113,713,923
Ensembl chr 7:113,713,855...113,713,923 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239 		JBrowse link
G Nfam1 NFAT activating protein with ITAM motif 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,139,318...114,175,395
Ensembl chr 7:114,139,345...114,175,442 		JBrowse link
G Pheta2 PH domain containing endocytic trafficking adaptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,855,437...113,861,910
Ensembl chr 7:113,857,249...113,861,871 		JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,378,469...113,385,035
Ensembl chr 7:113,378,471...113,385,460 		JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022 		JBrowse link
G Poldip3 DNA polymerase delta interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,274,845...114,303,278
Ensembl chr 7:114,275,085...114,303,271 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778 		JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051 		JBrowse link
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817 		JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,783,217...113,811,089
Ensembl chr 7:113,783,095...113,811,087 		JBrowse link
G Serhl2 serine hydrolase-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,246,035...114,266,298
Ensembl chr 7:114,246,056...114,272,781 		JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,722,408...113,727,858
Ensembl chr 7:113,722,408...113,727,858 		JBrowse link
G Smdt1 single-pass membrane protein with aspartate-rich tail 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,862,162...113,865,245
Ensembl chr 7:113,860,611...113,865,226 		JBrowse link
G Smim45 small integral membrane protein 45 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,769,175...113,773,952
Ensembl chr 7:113,765,468...113,773,339 		JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,565,293...113,570,887
Ensembl chr 7:113,565,295...113,570,872
Ensembl chr 1:113,565,295...113,570,872 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848 		JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839 		JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,317,191...113,341,783
Ensembl chr 7:113,317,283...113,341,783 		JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19666484 PMID:21041452 PMID:25741868 More... 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: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688 		JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878 		JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762 		JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399 		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: Immunodeficiency, common variable, 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512 		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: 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 C13h1orf116 similar to human chromosome 1 open reading frame 116 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,187,442...42,201,432
Ensembl chr13:42,188,609...42,201,426 		JBrowse link
G C4bpa complement component 4 binding protein, alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205 		JBrowse link
G C4bpb complement component 4 binding protein, beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,120,798...42,131,515
Ensembl chr13:42,120,798...42,131,817 		JBrowse link
G Cd34 CD34 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:106,480,313...106,500,844
Ensembl chr13:106,480,043...106,499,832 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831 		JBrowse link
G Cr1l complement C3b/C4b receptor 1 like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:106,606,952...106,660,442
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 More... NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Fcamr Fc alpha and mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,273,891...42,288,002
Ensembl chr13:42,273,628...42,287,113 		JBrowse link
G Fcmr Fc mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,337,363...42,351,706
Ensembl chr13:42,337,414...42,351,653 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473 		JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625 		JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487 		JBrowse link
G Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,147,473...42,174,699
Ensembl chr13:42,147,478...42,174,699 		JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,298,905...42,326,877
Ensembl chr13:42,298,914...42,326,875 		JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:106,163,103...106,358,979
Ensembl chr13:106,163,103...106,358,979 		JBrowse link
G Yod1 YOD1 deubiquitinase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,175,047...42,181,661
Ensembl chr13:42,174,820...42,177,205 		JBrowse link
common variable immunodeficiency 8 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:25640679 PMID:26206937 PMID:26768763 PMID:28492532 NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655 		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
ClinVar Annotator: match by term: Reduced protein C activity		 CTD
ClinVar		 PMID:1301954 PMID:1301959 PMID:1511988 PMID:1511989 PMID:1868249 More... 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
Ensembl chr 1:83,814,564...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:135,127,052...135,138,768
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
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:		 OMIM
ClinVar
CTD
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 3A treatment ISO DNA:polymorphism: :p.V176F (human) RGD PMID:21538321 RGD:11344956 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
Hemoglobin SC Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More... NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		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 Cavin1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120 		JBrowse link
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
ISS		 OMIM:147060
ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
OMIM
RGD		 PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 More... RGD:6892956 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668 		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 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More... NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
DNA:mutation:cds:		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... RGD:40907054 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:28492532 NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:33290277 NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629 		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 SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691 NCBI chr 3:143,122,699...143,156,250
Ensembl chr 3:143,119,093...143,156,249 		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 4B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28747427 More... 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 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More... NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome ClinVar PMID:28492532 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome		 CTD
ClinVar		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 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 Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022 		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		 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
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:33290277 NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629 		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 CTD 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 CTD NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Ung uracil-DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206 		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 OMIM
ClinVar		 PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
Hyper-IgE Recurrent Infection Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat6 signal transducer and activator of transcription 6 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections OMIM
ClinVar		 PMID:36884218 PMID:37316763 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495 		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
hyperimmunoglobulinemia D periodic fever syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type OMIM
ClinVar		 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 PMID:10369262 More... NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		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 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oas1a 2'-5' oligoadenylate synthetase 1A ISO ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia OMIM
ClinVar		 PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 More... NCBI chr12:35,669,798...35,680,505
Ensembl chr12:35,669,801...35,680,517 		JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1m2 adaptor related protein complex 1 subunit mu 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,838,579...19,856,560
Ensembl chr 8:19,838,580...19,856,482 		JBrowse link
G Atg4d autophagy related 4D, cysteine peptidase ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,807,733...19,817,321
Ensembl chr 8:19,807,766...19,817,321 		JBrowse link
G Cdc37 cell division cycle 37, HSP90 cochaperone ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,677,400...19,690,761
Ensembl chr 8:19,671,938...19,690,809 		JBrowse link
G Cdkn2d cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,831,874...19,834,640
Ensembl chr 8:19,831,866...19,834,674 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Icam4 intercellular adhesion molecule 4, Landsteiner-Wiener blood group ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,566,075...19,567,171
Ensembl chr 8:19,566,075...19,567,171 		JBrowse link
G Icam5 intercellular adhesion molecule 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,567,390...19,575,588
Ensembl chr 8:19,568,600...19,575,588 		JBrowse link
G Ilf3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,922,409...19,960,495
Ensembl chr 8:19,922,460...19,960,350 		JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Kri1 KRI1 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,817,005...19,831,516
Ensembl chr 8:19,817,017...19,831,392 		JBrowse link
G Mrpl4 mitochondrial ribosomal protein L4 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,539,593...19,545,608
Ensembl chr 8:19,539,593...19,545,608 		JBrowse link
G Pde4a phosphodiesterase 4A ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,690,816...19,753,538
Ensembl chr 8:19,703,290...19,751,961 		JBrowse link
G Qtrt1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,965,801...19,973,843
Ensembl chr 8:19,966,336...19,973,837 		JBrowse link
G Raver1 ribonucleoprotein, PTB-binding 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,610,464...19,629,188
Ensembl chr 8:19,610,466...19,629,152 		JBrowse link
G S1pr2 sphingosine-1-phosphate receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574 		JBrowse link
G S1pr5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,786,676...19,791,862
Ensembl chr 8:19,786,663...19,791,795 		JBrowse link
G Slc44a2 solute carrier family 44 member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 8:19,870,867...19,905,345
Ensembl chr 8:19,870,888...19,905,342 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 More... NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044 		JBrowse link
G Zglp1 zinc finger, GATA-like protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 8:19,599,871...19,604,762
Ensembl chr 8:19,599,998...19,604,547 		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 | ClinVar Annotator: match by term: HYOU1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AGMX2 | ClinVar Annotator: match by term: Immunodeficiency 61		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29636373 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747 		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: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 OMIM
ClinVar		 PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 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: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 OMIM
ClinVar		 PMID:9536098 PMID:12958596 PMID:15967827 PMID:16199547 PMID:17029639 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
ISS		 ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
OMIM:605258		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11007475 PMID:11112359 PMID:12715918 PMID:12910268 More... NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		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...156,599,279
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
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605
Ensembl chr 4:156,539,408...156,558,605 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 2 ClinVar PMID:16007086 PMID:16007087 PMID:17392798 PMID:18981294 PMID:21547394 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		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: IgA, selective deficiency of, TACI related | ClinVar Annotator: match by term: Immunoglobulin A deficiency 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 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 1:15,762,485...15,891,213
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 chr10:4,927,799...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 7:93,656,528...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
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13a ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702 		JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,898,969...97,902,874
Ensembl chr  X:97,898,883...97,903,299 		JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,980,662...97,985,523
Ensembl chr  X:97,980,660...97,985,552 		JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,937,115...97,942,098
Ensembl chr  X:97,936,999...97,942,098 		JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912 		JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,929,032...97,932,031
Ensembl chr  X:97,929,041...97,931,977 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 More... NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657 		JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,135,496...97,185,867
Ensembl chr  X:97,135,500...97,185,854 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,660,222...97,675,241
Ensembl chr  X:97,660,222...97,675,023 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,057,137...97,072,634
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,092,394...97,099,659
Ensembl chr  X:97,092,388...97,099,309 		JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759 		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
lymphoplasmacytic lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO DNA:mutation:cds:1013C>G(p.S338X)(human) RGD PMID:24711662 RGD:11352304 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Fcgr3a Fc gamma receptor 3A disease_progression
treatment		 ISO DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)		 RGD PMID:21564078 PMID:15659493 RGD:11040774, RGD:11352262 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:increased expression:bone marrow RGD PMID:32763516 RGD:401827827 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs: :multiple RGD PMID:19573080 RGD:11049165 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il6 interleukin 6 no_association ISO DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)
DNA:SNPs: :multiple		 RGD PMID:19573080 PMID:19573080 RGD:11049165, RGD:11049165 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:23355206 RGD:11530052 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic		 CTD
ClinVar
OMIM		 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		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 chr13:85,135,384...85,175,178
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 PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Mevalonic aciduria
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1377680 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 More... NCBI chr12:42,141,391...42,158,893
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
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:28492532 NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094 		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 Myd88 MYD88, innate immune signal transduction adaptor ISS MouseDO NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		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 Alkbh5 alkB homolog 5, RNA demethylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331 		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 6:89,522,459...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: Myelomatosis
protein:increased expression:serum		 ClinVar
RGD		 PMID:26619011 PMID:32856850 RGD:329955356 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		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
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		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 Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		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 Ccn1 cellular communication network factor 1 exacerbates ISO mRNA, protein:increased expression:bone marrow (human)
mRNA,protein:increased expression:bone marrow (human)		 RGD PMID:28035364 PMID:25061178 RGD:329845528, RGD:329845546 NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO DNA:snp:exon:c.870G>A (rs603965) (human)
ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 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:22403003 PMID:27243341 RGD:11352240, RGD:11352251, RGD:11352268 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		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
Ensembl chr13:106,574,858...106,660,445 		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 7:62,886,124...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 Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 treatment
no_association		 ISO DNA:polymorphisms: : RGD PMID:17666363 PMID:20684753 RGD:11352748, RGD:11352804 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		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 Dsg2 desmoglein 2 disease_progression ISO RGD PMID:34245117 RGD:401851080 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		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 DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNP:exon:rs2234922 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16949155 PMID:19736056 PMID:16949155 PMID:24521996 RGD:11252116, RGD:11252121, RGD:11252122 NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235 		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
sexual_dimorphism 		ISO DNA:polymorphism: :p.K751Q (rs13181) (human)
DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)		 RGD PMID:22183071 PMID:17131345 RGD:11252199, RGD:401827277 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		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 2A disease_progression
susceptibility		 ISO DNA:polymorphism: :rs1801274(human) RGD PMID:25850245 PMID:17315188 RGD:11040778, RGD:11040938 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myelomatosis		 CTD
ClinVar		 PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 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 chr12:7,623,930...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
Ensembl chr 1:95,609,370...95,620,463 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO mRNA:increased expression:bone marrow RGD PMID:34274946 RGD:329901767 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		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 Gpx3 glutathione peroxidase 3 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		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
no_association
treatment		 ISO DNA:polymorphism:cds:p.I105V(human)
DNA:polymorphism: :		 RGD PMID:23953887 PMID:18061666 PMID:17512053 RGD:10755413, RGD:10755419, RGD:11075094 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		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 H19 H19 imprinted maternally expressed transcript severity ISO RNA:decrased expression:blood serum (human) RGD PMID:29470951 RGD:156430335 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403 		JBrowse link
G H3c1 H3 clustered histone 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:41,368,379...41,368,902
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856 		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...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 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: 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: Myelomatosis ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 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:17926179 PMID:1777241 RGD:11049156, RGD:11051973, RGD:11059513 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		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 disease_progression
treatment		 ISO DNA:translocation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18568025 PMID:10557056 PMID:17690696 PMID:21707574 RGD:11526161, RGD:11530019, RGD:11530055 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO DNA:hypermethylation RGD PMID:23114132 RGD:329902071 NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829 		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:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More... 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: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis		 OMIM
CTD
ClinVar
RGD		 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More... 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 immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M694V(human) RGD PMID:25202401 RGD:11531123 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		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 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821 		JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041 		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 Mir17 microRNA 17 disease_progression ISO miRNA:increased expression:plasma cell RGD PMID:23718138 RGD:329337383 NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712 		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 Mir27a microRNA 27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917 		JBrowse link
G Mir320a microRNA 320a ameliorates ISO human gene in mouse model RGD PMID:27086852 RGD:155882577 NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473 		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...108,611,441
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 2:174,635,989...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: Myelomatosis ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... 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 Nono non-POU domain containing, octamer-binding exacerbates ISO mRNA:increased expression: (human) RGD PMID:32410217 RGD:155900765 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952 		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 Nox1 NADPH oxidase 1 ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 no_association ISO DNA:missense mutation:cds:p.P187S (human)
DNA:missense mutation:cds:p.P187S (609C>T) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16949155 PMID:18156703 PMID:18061666 RGD:10769348, RGD:10755419 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nras NRAS proto-oncogene, GTPase treatment ISO DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis		 ClinVar
RGD		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 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 Pf4 platelet factor 4 ameliorates ISO RGD PMID:21693026 RGD:329901828 NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... 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 Polr1g RNA polymerase I subunit G sexual_dimorphism ISO DNA:SNP:exon 1: p.G-21A (rs967591) (human) RGD PMID:17131345 RGD:401827277 NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766 		JBrowse link
G Pon1 paraoxonase 1 severity
treatment
susceptibility		 ISO protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.Q192R (human)		 RGD PMID:25520116 PMID:22348216 PMID:15136237 RGD:11552578, RGD:11040544, RGD:10450846 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16179254 PMID:24791872 RGD:11535030 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		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 chr20:3,202,178...3,203,599
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: 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 Rbbp8 RB binding protein 8, endonuclease exacerbates ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:30622325 RGD:401940173 NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846 		JBrowse link
G Rbp1 retinol binding protein 1 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:28492532 NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
G Robo1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:34268498 RGD:243048419 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G RT1-CE16 RT1 class I, locus CE16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17283154 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563 		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 chr12:34,731,934...34,753,617
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 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:hypermethylation: :		 CTD
RGD		 PMID:18172295 PMID:23699600 RGD:11073605 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396 		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...29,659,561
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 chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467 		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 5:77,250,942...77,277,364
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)
protein:increased expression:nucleus:
DNA:deletion: :
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 ClinVar
RGD		 PMID:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 More... RGD:11073716, RGD:11073728, RGD:11075073 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 Xdh xanthine dehydrogenase ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		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 Xrcc3 X-ray repair cross complementing 3 disease_progression ISO DNA:SNP,haplotype:: p.T241M (rs861535) (Human) RGD PMID:17131345 RGD:401827277 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		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 9:73,955,216...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
G Ythdf1 YTH N6-methyladenosine RNA binding protein F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172 		JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747 		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 Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 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:21647154 PMID:21889589 More... NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More... 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: 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 Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11779494 PMID:15333585 PMID:16088910 PMID:24123394 PMID:24759409 More... 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: 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 Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		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:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... 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:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
plasma cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
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 DNA:missense mutations:cds:p.L223F, p.I403M (human)
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutation:exon:p.R87H (3203G>A) (human)
DNA:missense mutation:exon:p.A259T (8490G>A) (human)		 CTD
RGD		 PMID:14707701 PMID:18376272 PMID:21445774 PMID:33761690 PMID:8128429 More... RGD:1578392, RGD:11099985, RGD:11099984 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
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: Protein S deficiency disease 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: Protein S deficiency disease ClinVar PMID:32581362 NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543 		JBrowse link
G Pros1 protein S no_association ISO ClinVar Annotator: match by term: Protein S deficiency disease
DNA:missense mutations, deletion: :multiple
DNA:frameshift mutation:exon:c.1113T>G (human)
DNA:SNPs: : c.1016T>A, c.1138A>C (human)
DNA:missense, nonsense, deletions: :multiple
DNA:deletions, duplication:exon, intron
DNA:missense mutation:exon:p.S460P (human)		 ClinVar
RGD		 PMID:7579449 PMID:7803790 PMID:8943854 PMID:9031443 PMID:9241758 More... RGD:1599209, RGD:11251679, RGD:11251677, RGD:11250419, RGD:11250419, RGD:11250418, RGD:11250415, RGD:1578677 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286 		JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Protein S deficiency disease ClinVar PMID:32581362 NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:23079294 PMID:20002538 RGD:11060129, RGD:11060140 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
Schnitzler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO RGD PMID:1831824 RGD:7794711 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:16096327 PMID:16096327 RGD:11522758 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
selective IgA deficiency disease 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: IgAD1 ClinVar PMID:17697196 PMID:18200502 PMID:18981294 PMID:21419480 PMID:21458042 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
selective IgG deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO mRNA:decreased expression:peripheral blood leukocyte: RGD PMID:9042436 RGD:10755693 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474 		JBrowse link
G Apob apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Bcl11a BCL11 transcription factor A severity
treatment		 ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698 PMID:22360576 PMID:21998251 RGD:11099970, RGD:11100007, RGD:11099996 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180 		JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:7554454 PMID:3896597 RGD:11040773, RGD:11040777 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cd36 CD36 molecule treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255 PMID:20015873 RGD:6893506, RGD:11041114 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cfb complement factor B ISO protein:decreased activity RGD PMID:10440069 PMID:12793071 RGD:11041159, RGD:11041160 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:26286849 PMID:8191393 RGD:11565074, RGD:11565080 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Gch1 GTP cyclohydrolase 1 sexual_dimorphism ISO DNA:SNP, haplotype:rs8007267 (human) RGD PMID:24136375 RGD:329961567 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO protein:decreased expression:penis RGD PMID:19951064 PMID:20846340 PMID:22620981 RGD:11352756, RGD:11352775, RGD:11352757 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:23049400 RGD:10450863 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:429843 More... RGD:1600892 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbe1 hemoglobin subunit epsilon 1 treatment ISO DNA:SNP: :rs7130110 (human) RGD PMID:12124399 PMID:23409025 RGD:11353858, RGD:11353860 NCBI chr 1:158,282,931...158,458,855
Ensembl chr 1:158,282,936...158,284,391 		JBrowse link
G Hk1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO
IMP		 RGD PMID:11238038 PMID:20306336 RGD:10755563, RGD:10755565 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO RGD PMID:21085184 RGD:10412315 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association		 ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:22924497 PMID:20113291 PMID:22924497 RGD:10449403, RGD:10449420, RGD:10449403 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) RGD PMID:24088668 RGD:11533647 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nppb natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20408845 PMID:21689089 RGD:5685653 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Selp selectin P ISO RGD PMID:21071696 RGD:6219007 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:603903 MouseDO NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:14965870 PMID:8140855 RGD:10449460 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
sickle cell disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Sickle cell disease OMIM
ClinVar		 PMID:14973 PMID:81926 PMID:88735 PMID:429843 PMID:721614 More... NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
Sickle Cell Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf1 serpin family F member 1 ISO protein:increased expression:retinal blood vessels (human) RGD PMID:12957143 RGD:8554869 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
Sickle Cell Trait term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) ClinVar PMID:284392 PMID:974261 PMID:1891024 PMID:5097135 PMID:5481775 More... NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hp haptoglobin ISO RGD PMID:21595649 PMID:19023114 RGD:5147416, RGD:5147440 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 severity ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:24840051 RGD:10450860 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:22833547 RGD:242905184 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:23643401 RGD:11100023 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
X-linked agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ameliorates ISO
ISS		 ClinVar Annotator: match by term: X-linked agammaglobulinemia
OMIM:300755
CTD Direct Evidence: marker/mechanism
Human gene in mouse model
human gene in a mouse model
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 PMID:7627183 More... RGD:124715475, RGD:124713551, RGD:11040698, RGD:11040588 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:300310 | OMIM:300755 MouseDO NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
X-linked hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Ung uracil-DNA glycosylase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
X-Linked Hypogammaglobulinemia 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: Hypogammaglobulinemia, X-linked ClinVar PMID:8758136 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18392
      hematopoietic system disease 3530
        blood protein disease 684
          Anhaptoglobinemia 2
          Corticosteroid-Binding Globulin, Elevated 0
          Deficiency of Plasma Clot Retraction Factor 0
          Hypergammaglobulinemia + 20
          Hypergastrinemia 1
          Hypoglobulinemia and Absent B Cells 0
          Hypoproteinemia + 13
          Kininogen Deficiency, High Molecular Weight and Low Molecular Weight 2
          Paraproteinemias + 182
          agammaglobulinemia + 363
          antithrombin III deficiency 22
          dysgammaglobulinemia + 71
          protein C deficiency + 16
          protein S deficiency + 5
          sickle cell disease + 45
          sulfhemoglobinemia + 0
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18392
      Hemic and Lymphatic Diseases 4042
        hematopoietic system disease 3530
          blood protein disease 684
            Anhaptoglobinemia 2
            Corticosteroid-Binding Globulin, Elevated 0
            Deficiency of Plasma Clot Retraction Factor 0
            Hypergammaglobulinemia + 20
            Hypergastrinemia 1
            Hypoglobulinemia and Absent B Cells 0
            Hypoproteinemia + 13
            Kininogen Deficiency, High Molecular Weight and Low Molecular Weight 2
            Paraproteinemias + 182
            agammaglobulinemia + 363
            antithrombin III deficiency 22
            dysgammaglobulinemia + 71
            protein C deficiency + 16
            protein S deficiency + 5
            sickle cell disease + 45
            sulfhemoglobinemia + 0
paths to the root