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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 chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
Acquired Protein C Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO associated with Sepsis;protein:increased activity:lung (rat) RGD PMID:18182560 RGD:11080962 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		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 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		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 chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell 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 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		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 chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO
IEA		 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:102700		 OMIM
ClinVar
MouseDO		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 2:163,568,491...163,592,161
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 More... NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G LOC107372314 adenosine deaminase intronic regulatory elements 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:3684597 PMID:7599635 PMID:8120281 PMID:8178821 PMID:8299233 More... NCBI chr 2:163,577,759...163,588,199 JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 More... NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846 		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 chr19:40,917,371...40,982,664
Ensembl chr19:40,917,371...40,982,978 		JBrowse link
G Btk Bruton agammaglobulinemia 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:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
G Cd19 CD19 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061 		JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		JBrowse link
G Cd79b CD79B antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588 		JBrowse link
G Ighm immunoglobulin heavy constant mu ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:113,382,446...113,386,350
Ensembl chr12:113,382,178...113,386,350 		JBrowse link
G Lrrc8a leucine rich repeat containing 8A VRAC subunit A ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14660746 RGD:1599837 NCBI chr 2:30,127,781...30,153,802
Ensembl chr 2:30,127,727...30,153,802 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:601495 | OMIM:612692 | OMIM:613500 | OMIM:613501 | OMIM:613502 | OMIM:613506 | OMIM:615214 MouseDO NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481 		JBrowse link
Agammaglobulinemia 1, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton agammaglobulinemia 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:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		JBrowse link
G Ighm immunoglobulin heavy constant mu ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 OMIM
ClinVar		 PMID:2115996 PMID:8890099 PMID:12370281 PMID:25741868 NCBI chr12:113,382,446...113,386,350
Ensembl chr12:113,382,178...113,386,350 		JBrowse link
Agammaglobulinemia 10, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spi1 spleen focus forming virus (SFFV) proviral integration 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:33951726 NCBI chr 2:90,912,750...90,946,104
Ensembl chr 2:90,912,735...90,946,101 		JBrowse link
Agammaglobulinemia 2, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora2a adenosine A2a receptor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618 		JBrowse link
G Cabin1 calcineurin binding protein 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,481,944...75,600,194
Ensembl chr10:75,481,946...75,600,175 		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 chr10:75,768,964...75,773,584
Ensembl chr10:75,768,964...75,773,581 		JBrowse link
G Ddt D-dopachrome tautomerase ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,607,067...75,609,208
Ensembl chr10:75,607,064...75,609,248 		JBrowse link
G Derl3 Der1-like domain family, member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,729,232...75,731,775
Ensembl chr10:75,729,247...75,731,775 		JBrowse link
G Ggt5 gamma-glutamyltransferase 5 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,425,161...75,453,034
Ensembl chr10:75,425,174...75,453,034 		JBrowse link
G Gm867 predicted gene 867 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,773,553...75,776,508
Ensembl chr10:75,773,557...75,776,506 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Gstt2 glutathione S-transferase, theta 2 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,667,676...75,673,253
Ensembl chr10:75,666,948...75,673,258 		JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,759,056...75,768,336
Ensembl chr10:75,759,056...75,772,330 		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 chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,047,872...75,148,234
Ensembl chr10:75,047,905...75,148,577 		JBrowse link
G Susd2 sushi domain containing 2 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,472,453...75,479,842
Ensembl chr10:75,472,540...75,479,842 		JBrowse link
G Upb1 ureidopropionase, beta ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,242,745...75,277,513
Ensembl chr10:75,236,949...75,277,513 		JBrowse link
G Vpreb3 pre-B lymphocyte gene 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,778,859...75,785,491
Ensembl chr10:75,778,891...75,785,491 		JBrowse link
Agammaglobulinemia 3, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar		 PMID:10525050 PMID:11920841 PMID:24481606 PMID:24728327 PMID:25741868 More... NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		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 chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907 		JBrowse link
G Blnk B cell linker ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr19:40,917,371...40,982,664
Ensembl chr19:40,917,371...40,982,978 		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 chr19:40,737,197...40,818,227
Ensembl chr19:40,737,197...40,816,187 		JBrowse link
G Ccnj cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr19:40,819,345...40,837,016
Ensembl chr19:40,819,723...40,837,016 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr19:40,600,810...40,730,046
Ensembl chr19:40,600,810...40,730,046 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr19:40,584,890...40,600,768
Ensembl chr19:40,584,890...40,600,677 		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:28492532 NCBI chr19:40,882,472...40,906,391
Ensembl chr19:40,883,149...40,906,391 		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 8A VRAC subunit A ISO ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant OMIM
ClinVar		 PMID:14660746 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:30,127,781...30,153,802
Ensembl chr 2:30,127,727...30,153,802 		JBrowse link
Agammaglobulinemia 6, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79B antigen ISO ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588 		JBrowse link
Agammaglobulinemia 7, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive OMIM
ClinVar		 PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25741868 More... NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725 		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: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant OMIM
ClinVar		 PMID:21693761 PMID:24216514 PMID:25741868 PMID:28492532 PMID:28532655 More... NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481 		JBrowse link
Agammaglobulinemia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a7 solute carrier family 39 (zinc transporter), member 7 ISO ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive OMIM
ClinVar		 PMID:30718914 NCBI chr17:34,247,240...34,250,664
Ensembl chr17:34,247,243...34,250,656 		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 chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
Anhaptoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hp haptoglobin ISO ClinVar Annotator: match by term: AHAPTOGLOBINEMIA | ClinVar Annotator: match by term: Anhaptoglobinemia OMIM
ClinVar		 PMID:9463309 PMID:10644822 PMID:10666182 PMID:14616769 PMID:14999562 More... NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
antithrombin III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930523C07Rik RIKEN cDNA 4930523C07 gene ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:159,871,950...159,906,157
Ensembl chr 1:159,871,952...159,907,778 		JBrowse link
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:160,970,017...160,998,077
Ensembl chr 1:160,970,261...160,998,068 		JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:160,029,937...160,040,462
Ensembl chr 1:160,029,937...160,040,445 		JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:160,898,337...160,914,294
Ensembl chr 1:160,898,283...160,914,294 		JBrowse link
G Cop1 COP1, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:159,059,734...159,182,442
Ensembl chr 1:159,059,890...159,175,210 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228 		JBrowse link
G Gas5 growth arrest specific 5 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:160,862,171...160,866,109
Ensembl chr 1:160,861,992...160,866,109 		JBrowse link
G Gm6185 predicted gene 6185 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:161,006,274...161,062,743
Ensembl chr 1:161,004,506...161,064,877 		JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:160,402,287...160,407,274
Ensembl chr 1:160,403,908...160,405,544 		JBrowse link
G Klhl20 kelch-like 20 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:160,915,945...160,959,078
Ensembl chr 1:160,915,945...160,959,081 		JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:160,022,785...160,028,756
Ensembl chr 1:160,022,785...160,029,740 		JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:161,067,682...161,078,780
Ensembl chr 1:161,067,682...161,078,789 		JBrowse link
G Rabgap1l RAB GTPase activating protein 1-like ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:160,046,744...160,621,046
Ensembl chr 1:160,046,744...160,620,781 		JBrowse link
G Rc3h1 RING CCCH (C3H) domains 1 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:160,733,981...160,802,546
Ensembl chr 1:160,733,988...160,802,548 		JBrowse link
G Scarna3a small Cajal body-specific RNA 3A ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:159,167,877...159,167,994 JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 susceptibility ISO
IEA		 ClinVar Annotator: match by term: Hereditary antithrombin deficiency
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 chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433 		JBrowse link
G Tex50 testis expressed 50 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:160,984,413...160,986,884
Ensembl chr 1:160,982,128...160,986,884 		JBrowse link
G Tnfsf18 tumor necrosis factor (ligand) superfamily, member 18 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:161,322,226...161,332,859
Ensembl chr 1:161,322,224...161,332,859 		JBrowse link
G Tnfsf4 tumor necrosis factor (ligand) superfamily, member 4 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:161,223,009...161,245,777
Ensembl chr 1:161,222,980...161,245,981 		JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:159,912,599...159,981,242
Ensembl chr 1:159,912,599...159,981,150 		JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:159,351,170...159,759,299
Ensembl chr 1:159,351,339...159,759,299 		JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 1:160,830,492...160,862,432
Ensembl chr 1:160,830,492...160,862,419 		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
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)		 OMIM
ClinVar
RGD		 PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 4:40,682,078...40,703,206
Ensembl chr 4:40,682,382...40,703,194 		JBrowse link
G Pnkp polynucleotide kinase 3'- phosphatase ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:44,505,903...44,514,761
Ensembl chr 7:44,506,563...44,512,416 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483 		JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcd protein kinase C, delta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar		 PMID:9536098 PMID:11976687 PMID:17576681 PMID:23319571 PMID:23430113 More... NCBI chr14:30,317,310...30,348,637
Ensembl chr14:30,317,311...30,348,167 		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 chr14:30,375,041...30,413,274
Ensembl chr14:30,376,317...30,413,274 		JBrowse link
autosomal dominant thrombophilia due to protein C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C ISO 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 chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623 		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 (alpha) ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant OMIM
ClinVar		 PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 More... NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709 		JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 OMIM
ClinVar		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chr 1:105,708,448...105,777,172
Ensembl chr 1:105,708,443...105,775,709 		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 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive OMIM
ClinVar		 PMID:1347608 PMID:1347706 PMID:1348046 PMID:1511988 PMID:1593215 More... NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623 		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 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 chr16:62,613,671...62,667,418
Ensembl chr16:62,614,048...62,667,403 		JBrowse link
G Nsun3 NOL1/NOP2/Sun domain family member 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 chr16:62,552,807...62,607,238
Ensembl chr16:62,552,807...62,607,181 		JBrowse link
G Pros1 protein S (alpha) ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive OMIM
ClinVar		 PMID:1547381 PMID:2143091 PMID:2231208 PMID:2526663 PMID:7545463 More... NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709 		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 chr16:62,635,039...62,643,085
Ensembl chr16:62,635,039...62,644,709 		JBrowse link
CD40 ligand deficiency 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: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:55,939,594...56,025,719
Ensembl chr  X:55,915,523...56,046,918 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:56,276,845...56,384,119
Ensembl chr  X:56,276,845...56,384,089 		JBrowse link
G Brs3 bombesin-like receptor 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:56,088,434...56,094,118
Ensembl chr  X:56,088,434...56,094,118 		JBrowse link
G Cd40lg CD40 ligand disease_progression IDA
ISO		 ClinVar Annotator: match by term: Hyper IgM immunodeficiency, X-linked | ClinVar Annotator: match by term: IMMUNODEFICIENCY 3 | 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
CTD
OMIM
RGD		 PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:56,257,503...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:55,776,569...55,838,706
Ensembl chr  X:55,777,147...55,838,706 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:56,542,028...56,549,117
Ensembl chr  X:56,542,028...56,549,117 		JBrowse link
G Htatsf1 HIV TAT specific factor 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:56,098,930...56,112,543
Ensembl chr  X:56,098,943...56,112,543 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:55,840,193...55,867,866
Ensembl chr  X:55,843,218...55,867,686 		JBrowse link
G Rbmx RNA binding motif protein, X chromosome ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:56,428,708...56,438,405
Ensembl chr  X:56,428,890...56,438,396 		JBrowse link
G Slc9a6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:55,654,921...55,709,590
Ensembl chr  X:55,655,117...55,709,590 		JBrowse link
G Vgll1 vestigial like family member 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:56,133,466...56,151,900
Ensembl chr  X:56,133,466...56,151,900 		JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:57,075,988...57,081,990
Ensembl chr  X:57,068,060...57,087,096 		JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 0610010K14Rik RIKEN cDNA 0610010K14 gene ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,126,030...70,128,808
Ensembl chr11:70,126,032...70,128,740 		JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237 		JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,772,393...69,786,390
Ensembl chr11:69,772,393...69,786,365 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,132,283...70,146,206
Ensembl chr11:70,132,283...70,146,179 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,047,898...69,060,617
Ensembl chr11:69,047,815...69,060,618 		JBrowse link
G Alox8 arachidonate 8-lipoxygenase ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,074,711...69,088,669
Ensembl chr11:69,074,758...69,088,669 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,016,243...69,039,941
Ensembl chr11:69,016,722...69,039,941 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,939,735...69,948,721
Ensembl chr11:69,944,911...69,948,720 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,983,470...69,997,013
Ensembl chr11:69,983,470...69,997,013 		JBrowse link
G Atp1b2 ATPase, Na+/K+ transporting, beta 2 polypeptide ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,490,554...69,496,786
Ensembl chr11:69,490,562...69,496,768 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:68,936,450...68,942,490
Ensembl chr11:68,936,473...68,942,490 		JBrowse link
G Bcl6b B cell CLL/lymphoma 6, member B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,114,953...70,120,624
Ensembl chr11:70,114,954...70,120,624 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:68,950,601...68,952,402
Ensembl chr11:68,950,543...68,952,404 		JBrowse link
G Cd19 CD19 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 NCBI chr  X:56,257,503...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cd68 CD68 antigen ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,555,039...69,556,996
Ensembl chr11:69,555,039...69,556,979 		JBrowse link
G Cd81 CD81 antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:142,606,487...142,621,667
Ensembl chr 7:142,606,476...142,621,671 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,234,099...69,260,325
Ensembl chr11:69,234,099...69,260,232 		JBrowse link
G Chrnb1 cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,674,862...69,686,791
Ensembl chr11:69,674,862...69,686,769 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,855,605...69,858,712
Ensembl chr11:69,855,605...69,858,711 		JBrowse link
G Clec10a C-type lectin domain family 10, member A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,057,449...70,061,662
Ensembl chr11:70,047,023...70,061,660 		JBrowse link
G Cntrob centrobin, centrosomal BRCA2 interacting protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,188,735...69,214,720
Ensembl chr11:69,190,313...69,214,601 		JBrowse link
G Cr2 complement receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024 		JBrowse link
G Ctc1 CTS telomere maintenance complex component 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,871,994...69,881,427
Ensembl chr11:69,871,982...69,881,427 		JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,281,756...69,287,005
Ensembl chr11:69,282,751...69,286,457 		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 chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348 		JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,311,635...69,439,934
Ensembl chr11:69,311,635...69,439,936 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,891,418...69,900,935
Ensembl chr11:69,891,421...69,903,127 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,444,918...69,452,428
Ensembl chr11:69,444,918...69,451,031 		JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,557,762...69,563,249
Ensembl chr11:69,557,762...69,563,249 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,807,538...69,812,784
Ensembl chr11:69,807,540...69,812,784 		JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,859,050...69,872,352
Ensembl chr11:69,859,048...69,873,343 		JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:72,205,270...72,210,245
Ensembl chr11:72,205,270...72,210,242 		JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,686,894...69,693,775
Ensembl chr11:69,686,894...69,692,683 		JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,523,788...69,544,123
Ensembl chr11:69,523,816...69,544,123 		JBrowse link
G Gabarap gamma-aminobutyric acid receptor associated protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,882,196...69,885,775
Ensembl chr11:69,881,969...69,885,777 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,804,805...69,807,882
Ensembl chr11:69,804,714...69,807,417 		JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,009,783...69,014,880
Ensembl chr11:69,011,230...69,014,881 		JBrowse link
G Icos inducible T cell co-stimulator IEA
ISO		 OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD		 NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926 		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 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742 		JBrowse link
G Kcnab3 potassium voltage-gated channel, shaker-related subfamily, beta member 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,217,084...69,223,867
Ensembl chr11:69,217,084...69,223,868 		JBrowse link
G Kctd11 potassium channel tetramerisation domain containing 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,769,090...69,771,811
Ensembl chr11:69,769,087...69,772,232 		JBrowse link
G Kdm6b KDM1 lysine (K)-specific demethylase 6B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,289,334...69,311,188
Ensembl chr11:69,289,334...69,304,501 		JBrowse link
G Lrba LPS-responsive beige-like anchor ISS OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767 MouseDO NCBI chr 3:86,130,763...86,690,001
Ensembl chr 3:86,131,987...86,689,999 		JBrowse link
G Manba mannosidase, beta A, lysosomal ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 NCBI chr 3:135,191,367...135,277,165
Ensembl chr 3:135,191,372...135,277,165 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) RGD PMID:10652157 RGD:4889436 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mir195a microRNA 195a ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,125,868...70,125,961
Ensembl chr11:70,125,868...70,125,961 		JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,547,523...69,553,475
Ensembl chr11:69,547,523...69,553,468 		JBrowse link
G Ms4a1 membrane-spanning 4-domains, subfamily A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605 		JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,286,617...69,287,497
Ensembl chr11:69,286,313...69,287,506 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,792,545...69,804,650
Ensembl chr11:69,791,898...69,804,646 		JBrowse link
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable agammaglobulinemia		 CTD
ClinVar		 PMID:25741868 PMID:29477724 PMID:32278790 NCBI chr 3:135,290,416...135,397,728
Ensembl chr 3:135,290,416...135,397,308 		JBrowse link
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 IEA
ISO		 OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767
ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD		 PMID:24140114 PMID:25524009 PMID:25741868 PMID:28492532 PMID:28778864 More... NCBI chr19:46,285,478...46,300,839
Ensembl chr19:46,292,759...46,300,824 		JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,713,949...69,728,610
Ensembl chr11:69,713,948...69,728,610 		JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454 		JBrowse link
G Per1 period circadian clock 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:68,985,934...69,000,791
Ensembl chr11:68,986,043...69,000,786 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,886,592...69,890,837
Ensembl chr11:69,886,603...69,890,835 		JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,734,937...69,742,884
Ensembl chr11:69,737,202...69,742,884 		JBrowse link
G Polr2a polymerase (RNA) II (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,624,823...69,649,459
Ensembl chr11:69,624,823...69,649,463 		JBrowse link
G Rag2 recombination activating gene 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 More... NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874 		JBrowse link
G Rnasek ribonuclease, RNase K ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,128,949...70,130,678
Ensembl chr11:70,126,032...70,130,656
Ensembl chr11:70,126,032...70,130,656 		JBrowse link
G Sat2 spermidine/spermine N1-acetyl transferase 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,512,824...69,514,857
Ensembl chr11:69,512,850...69,514,696 		JBrowse link
G Senp3 SUMO/sentrin specific peptidase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,563,936...69,572,910
Ensembl chr11:69,563,941...69,572,910 		JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,501,108...69,508,852
Ensembl chr11:69,505,630...69,508,731 		JBrowse link
G Slc13a5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:72,132,816...72,158,092
Ensembl chr11:72,132,815...72,158,048 		JBrowse link
G Slc16a11 solute carrier family 16 (monocarboxylic acid transporters), member 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,104,713...70,107,240
Ensembl chr11:70,103,578...70,107,243 		JBrowse link
G Slc16a13 solute carrier family 16 (monocarboxylic acid transporters), member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,107,615...70,113,638
Ensembl chr11:70,107,615...70,111,890 		JBrowse link
G Slc2a4 solute carrier family 2 (facilitated glucose transporter), member 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014 		JBrowse link
G Sox15 SRY (sex determining region Y)-box 15 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,545,863...69,547,553
Ensembl chr11:69,546,140...69,547,553 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,711,697...69,712,991
Ensembl chr11:69,711,702...69,713,006 		JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,707,386...69,709,313
Ensembl chr11:69,707,392...69,709,291 		JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:72,235,543...72,253,268
Ensembl chr11:72,235,548...72,253,268 		JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,694,421...69,696,450
Ensembl chr11:69,694,429...69,696,450 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,729,198...69,730,444
Ensembl chr11:69,729,340...69,730,444 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,287,342...69,289,060
Ensembl chr11:69,287,345...69,289,060 		JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,766,880...69,768,997
Ensembl chr11:69,766,883...69,768,879 		JBrowse link
G Tnfrsf13b tumor necrosis factor 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 agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency		 CTD
ClinVar		 PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 More... NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		JBrowse link
G Tnfrsf13c tumor necrosis factor 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 chr15:82,105,943...82,108,581
Ensembl chr15:82,105,944...82,108,570 		JBrowse link
G Tnfsf12 tumor necrosis factor (ligand) superfamily, member 12 ISO ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chr11:69,577,066...69,586,924
Ensembl chr11:69,577,076...69,586,675 		JBrowse link
G Tnfsf13 tumor necrosis factor (ligand) superfamily, member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,573,403...69,576,380
Ensembl chr11:69,573,672...69,576,610 		JBrowse link
G Tnfsfm13 tumor necrosis factor (ligand) superfamily, membrane-bound member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chr11:69,573,403...69,586,924
Ensembl chr11:69,573,403...69,586,924 		JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,741,389...69,749,556
Ensembl chr11:69,741,831...69,749,556 		JBrowse link
G Trappc1 trafficking protein particle complex 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,214,812...69,216,619
Ensembl chr11:69,214,806...69,216,619 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Ttc7 tetratricopeptide repeat domain 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 PMID:28492532 PMID:32499645 NCBI chr17:87,590,245...87,689,198
Ensembl chr17:87,590,314...87,689,197 		JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:68,979,354...68,983,207
Ensembl chr11:68,979,316...68,983,210 		JBrowse link
G Wrap53 WD repeat containing, antisense to Trp53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,452,580...69,471,076
Ensembl chr11:69,452,584...69,471,081 		JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:72,192,229...72,204,560
Ensembl chr11:72,192,455...72,204,559 		JBrowse link
G Ybx2 Y box protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,826,711...69,832,429
Ensembl chr11:69,826,622...69,832,431 		JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,656,738...69,674,852
Ensembl chr11:69,656,738...69,674,849 		JBrowse link
Common Variable Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12577056 PMID:19380800 PMID:28492532 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		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:12577056 PMID:15507387 PMID:16199547 More... NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479 		JBrowse link
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:24140114 NCBI chr19:46,285,478...46,300,839
Ensembl chr19:46,292,759...46,300,824 		JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		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 of kappa light polypeptide gene enhancer in B cells 2, p49/p100 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 OMIM
ClinVar		 PMID:9536098 PMID:16303288 PMID:17576681 PMID:22013103 PMID:24033266 More... NCBI chr19:46,285,478...46,300,839
Ensembl chr19:46,292,759...46,300,824 		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 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		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 of kappa light polypeptide gene enhancer in B cells 1, p105 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 OMIM
ClinVar		 PMID:11583829 PMID:16639407 PMID:25741868 PMID:26279205 PMID:27365489 More... NCBI chr 3:135,290,416...135,397,728
Ensembl chr 3:135,290,416...135,397,308 		JBrowse link
G Nfkbid nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, delta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chr 7:30,121,156...30,128,173
Ensembl chr 7:30,121,157...30,128,171 		JBrowse link
Common Variable Immunodeficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 OMIM
ClinVar		 PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:28927821 More... NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926 		JBrowse link
Common Variable Immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf2bp2 interferon regulatory factor 2 binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 NCBI chr 8:127,315,035...127,320,725
Ensembl chr 8:127,315,035...127,320,725 		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 family 3, subfamily A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,114,243...61,158,354
Ensembl chr11:61,114,243...61,158,290 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,428,509...60,449,338
Ensembl chr11:60,427,207...60,449,338 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,291,450...60,311,306
Ensembl chr11:60,291,452...60,309,283 		JBrowse link
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:59,708,621...59,739,071
Ensembl chr11:59,708,621...59,730,664 		JBrowse link
G Cr2 complement receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024 		JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,243,063...60,285,168
Ensembl chr11:60,244,155...60,285,167 		JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,345,414...60,359,580
Ensembl chr11:60,345,417...60,359,580 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,406,709...61,470,560
Ensembl chr11:61,408,075...61,470,513 		JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,574,908...61,600,776
Ensembl chr11:61,574,917...61,600,777 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:59,682,234...59,706,138
Ensembl chr11:59,682,234...59,700,842 		JBrowse link
G Flii flightless I actin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,604,969...60,618,089
Ensembl chr11:60,604,949...60,618,089 		JBrowse link
G Gid4 GID complex subunit 4, VID24 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,307,971...60,336,103
Ensembl chr11:60,307,971...60,341,753 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,544,081...61,563,610
Ensembl chr11:61,544,091...61,563,610 		JBrowse link
G Llgl1 LLGL1 scribble cell polarity complex component ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,590,501...60,605,012
Ensembl chr11:60,590,549...60,605,012 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:59,839,040...59,854,132
Ensembl chr11:59,839,032...59,853,031 		JBrowse link
G Mfap4 microfibrillar-associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,376,257...61,379,536
Ensembl chr11:61,376,257...61,379,726 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,619,224...60,623,777
Ensembl chr11:60,619,224...60,623,777 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:59,552,973...59,671,688
Ensembl chr11:59,552,131...59,671,686 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:59,738,692...59,767,359
Ensembl chr11:59,730,273...59,771,794 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:59,861,440...59,937,394
Ensembl chr11:59,861,440...59,937,315 		JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:59,674,719...59,678,483
Ensembl chr11:59,674,723...59,678,471 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,620,476...61,652,924
Ensembl chr11:61,620,476...61,652,914 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:59,995,743...60,090,023
Ensembl chr11:59,995,839...60,090,023 		JBrowse link
G Rasd1 RAS, dexamethasone-induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:59,854,007...59,855,770
Ensembl chr11:59,854,007...59,855,770 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,339,243...61,345,014
Ensembl chr11:61,339,268...61,344,957 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 (soluble) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,678,933...60,702,091
Ensembl chr11:60,678,930...60,702,544 		JBrowse link
G Slc47a1 solute carrier family 47, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,234,226...61,269,668
Ensembl chr11:61,234,227...61,269,171 		JBrowse link
G Slc5a10 solute carrier family 5 (sodium/glucose cotransporter), member 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,563,608...61,611,641
Ensembl chr11:61,563,607...61,611,652 		JBrowse link
G Smcr8 Smith-Magenis syndrome chromosome region, candidate 8 homolog (human) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,668,351...60,679,113
Ensembl chr11:60,668,350...60,679,113 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407 		JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 OMIM
ClinVar		 PMID:8072530 PMID:9536098 PMID:15077010 PMID:16007086 PMID:16007087 More... NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		JBrowse link
G Tnfrsf13c tumor necrosis factor receptor superfamily, member 13c ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:82,105,943...82,108,581
Ensembl chr15:82,105,944...82,108,570 		JBrowse link
G Tom1l2 target of myb1-like 2 (chicken) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,114,622...60,243,766
Ensembl chr11:60,117,540...60,243,731 		JBrowse link
G Top3a topoisomerase (DNA) III alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,629,035...60,668,191
Ensembl chr11:60,630,884...60,668,191 		JBrowse link
G Tvp23b trans-golgi network vesicle protein 23B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:62,770,281...62,786,012
Ensembl chr11:62,770,281...62,807,606 		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 antigen 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 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061 		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 chr15:83,110,923...83,135,930
Ensembl chr15:83,110,923...83,135,975 		JBrowse link
G Aco2 aconitase 2, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,756,664...81,799,338
Ensembl chr15:81,756,510...81,799,334 		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 chr15:82,012,101...82,026,404
Ensembl chr15:82,012,123...82,026,404 		JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,115,694...82,128,974
Ensembl chr15:82,117,980...82,128,949 		JBrowse link
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,570,366...81,581,564
Ensembl chr15:81,562,497...81,581,488 		JBrowse link
G Csdc2 cold shock domain containing C2, RNA binding ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,820,960...81,835,142
Ensembl chr15:81,820,960...81,835,142 		JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:83,037,696...83,060,641
Ensembl chr15:83,037,695...83,056,793 		JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461 		JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,876,724...81,900,424
Ensembl chr15:81,876,724...81,918,063 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,470,329...81,536,278
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G L3mbtl2 L3MBTL2 polycomb repressive complex 1 subunit ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,548,090...81,572,516
Ensembl chr15:81,548,090...81,572,516 		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 chr15:81,954,275...82,011,018
Ensembl chr15:81,954,197...82,011,015 		JBrowse link
G Mir33 microRNA 33 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,082,323...82,082,391
Ensembl chr15:82,082,323...82,082,391 		JBrowse link
G Naga N-acetyl galactosaminidase, alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,213,733...82,223,076
Ensembl chr15:82,213,733...82,223,126 		JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,234,340...82,238,492
Ensembl chr15:82,234,341...82,238,523 		JBrowse link
G Nfam1 Nfat activating molecule with ITAM motif 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,880,937...82,917,598
Ensembl chr15:82,877,174...82,917,507 		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 chr15:82,223,148...82,229,911
Ensembl chr15:82,223,143...82,229,944 		JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,748,717...81,756,093
Ensembl chr15:81,748,721...81,756,112 		JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,835,307...81,845,131
Ensembl chr15:81,835,309...81,845,131 		JBrowse link
G Poldip3 polymerase (DNA-directed), delta interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:83,010,169...83,033,579
Ensembl chr15:83,010,177...83,033,585 		JBrowse link
G Polr3h polymerase (RNA) III (DNA directed) polypeptide H ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,799,231...81,813,824
Ensembl chr15:81,772,429...81,810,441 		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 chr15:81,588,449...81,614,120
Ensembl chr15:81,588,449...81,629,731 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,350,517...81,360,570
Ensembl chr15:81,350,497...81,360,570 		JBrowse link
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:83,000,047...83,007,002
Ensembl chr15:82,997,634...83,007,002 		JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,153,003...82,178,775
Ensembl chr15:82,153,003...82,178,775 		JBrowse link
G Serhl serine hydrolase-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,984,394...83,000,876
Ensembl chr15:82,973,707...83,000,875 		JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,090,369...82,097,049
Ensembl chr15:82,090,369...82,097,016 		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 chr15:82,229,901...82,233,266
Ensembl chr15:82,223,160...82,233,292 		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 chr15:82,136,673...82,144,947
Ensembl chr15:82,136,598...82,144,954 		JBrowse link
G Snu13 SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,925,546...81,931,799
Ensembl chr15:81,924,726...81,931,799 		JBrowse link
G Srebf2 sterol regulatory element binding factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,031,470...82,089,580
Ensembl chr15:82,031,382...82,089,580 		JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,692,648...82,872,304
Ensembl chr15:82,692,637...82,872,073 		JBrowse link
G Tef thyrotroph embryonic factor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,686,874...81,711,064
Ensembl chr15:81,686,622...81,711,064 		JBrowse link
G Tnfrsf13c tumor necrosis factor receptor superfamily, member 13c ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 OMIM
ClinVar		 PMID:19666484 PMID:21041452 PMID:25741868 PMID:28492532 NCBI chr15:82,105,943...82,108,581
Ensembl chr15:82,105,944...82,108,570 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,732,471...81,744,742
Ensembl chr15:81,732,473...81,742,997 		JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,183,126...82,198,848
Ensembl chr15:82,183,155...82,198,824 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,284,282...81,341,683
Ensembl chr15:81,284,339...81,341,683 		JBrowse link
G Xrcc6 X-ray repair complementing defective repair in Chinese hamster cells 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,868,805...81,924,286
Ensembl chr15:81,872,036...81,924,286 		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 chr15:81,629,299...81,680,470
Ensembl chr15:81,629,258...81,680,461 		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, subfamily A, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605 		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 antigen ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 OMIM
ClinVar		 PMID:20237408 PMID:25741868 PMID:28492532 NCBI chr 7:142,606,487...142,621,667
Ensembl chr 7:142,606,476...142,621,671 		JBrowse link
Common Variable Immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AA986860 expressed sequence AA986860 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,659,713...130,672,359
Ensembl chr 1:130,659,713...130,672,359 		JBrowse link
G Cd34 CD34 antigen ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,621,129...194,643,600
Ensembl chr 1:194,621,127...194,643,587 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		JBrowse link
G Cd55 CD55 molecule, decay accelerating factor for complement ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,357,526...130,392,746
Ensembl chr 1:130,366,764...130,390,481 		JBrowse link
G Cr1l complement component (3b/4b) receptor 1-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,781,019...194,813,878
Ensembl chr 1:194,779,690...194,813,894 		JBrowse link
G Cr2 complement receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 More... NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024 		JBrowse link
G Fcamr Fc receptor, IgA, IgM, high affinity ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,712,444...130,753,641
Ensembl chr 1:130,728,639...130,742,477 		JBrowse link
G Fcmr Fc fragment of IgM receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,793,514...130,808,527
Ensembl chr 1:130,793,406...130,808,528 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852 		JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,834,722...130,839,033
Ensembl chr 1:130,834,722...130,839,188 		JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,809,811...130,815,148
Ensembl chr 1:130,809,811...130,815,191 		JBrowse link
G Mir29c microRNA 29c ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,719,855...194,719,942
Ensembl chr 1:194,719,855...194,719,942 		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 chr 1:130,616,780...130,656,990
Ensembl chr 1:130,616,919...130,656,990
Ensembl chr 1:130,616,919...130,656,990 		JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,754,421...130,779,986
Ensembl chr 1:130,754,421...130,779,986 		JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,302,020...194,499,177
Ensembl chr 1:194,300,526...194,499,177 		JBrowse link
G Yod1 YOD1 deubiquitinase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,645,064...130,649,810
Ensembl chr 1:130,645,064...130,652,095 		JBrowse link
G Zp3r zona pellucida 3 receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,474,847...130,557,371
Ensembl chr 1:130,504,450...130,557,358 		JBrowse link
Common Variable Immunodeficiency 8, with Autoimmunity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS-responsive beige-like anchor 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 3:86,130,763...86,690,001
Ensembl chr 3:86,131,987...86,689,999 		JBrowse link
G Mab21l2 mab-21-like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:26206937 PMID:26768763 PMID:28492532 NCBI chr 3:86,453,357...86,455,590
Ensembl chr 3:86,452,888...86,455,936 		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 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 chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623 		JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B (MDR/TAP), member 1A susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Cd86 CD86 antigen ISO associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) RGD PMID:23840845 RGD:11354974 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Cxcl10 chemokine (C-X-C motif) ligand 10 ISO associated with hepatitis C; protein:increased expression:serum RGD PMID:18775023 RGD:27095893 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Ifnl2 interferon lambda 2 susceptibility
severity		 ISO associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:24293567 PMID:24293567 RGD:11528546, RGD:11528546 NCBI chr 7:28,208,209...28,209,957
Ensembl chr 7:28,208,261...28,209,880 		JBrowse link
G Tcn2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr11:3,867,077...3,882,078
Ensembl chr11:3,867,192...3,882,159 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tslp thymic stromal lymphopoietin IEA MouseDO NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850 		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 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		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 chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850 		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:56,257,503...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Igkc immunoglobulin kappa constant ISO CTD Direct Evidence: marker/mechanism CTD PMID:3931219 NCBI chr 6:70,703,419...70,703,738
Ensembl chr 6:70,703,419...70,703,950 		JBrowse link
G Ung uracil DNA glycosylase ISO Hyper-IgM syndrome 5, OMIM:608106 RGD PMID:12958596 RGD:1599705 NCBI chr 5:114,268,427...114,277,382
Ensembl chr 5:114,268,447...114,277,384 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
DNA:mutation:splicing site:		 OMIM
ClinVar
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr4 Fc receptor, IgG, low affinity IV treatment ISO DNA:polymorphism: :p.V176F (human) RGD PMID:21538321 RGD:11344956 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		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 Il4ra interleukin 4 receptor, alpha no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 ClinVar PMID:25741868 PMID:32207811 NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO
IEA		 ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1
OMIM:147060		 ClinVar
MouseDO
OMIM
RGD		 PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 More... RGD:6892956 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
DNA:mutation:cds:		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... RGD:40907054 NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:14722525 PMID:19776401 PMID:20622910 PMID:27398204 PMID:28492532 More... NCBI chr19:25,214,091...25,411,862
Ensembl chr19:25,214,339...25,411,860 		JBrowse link
hyper IgE recurrent infection syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp341 zinc finger protein 341 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691 NCBI chr 2:154,453,736...154,488,741
Ensembl chr 2:154,455,217...154,488,741 		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 signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28747427 PMID:30309848 PMID:32207811 More... NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620 		JBrowse link
hyper IgE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism
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 | ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive		 CTD
ClinVar		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 9:86,349,194...86,437,859
Ensembl chr 9:86,349,207...86,437,976 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:14722525 PMID:19776401 PMID:20622910 PMID:27398204 PMID:28492532 More... NCBI chr19:25,214,091...25,411,862
Ensembl chr19:25,214,339...25,411,860 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 9:86,423,997...86,453,927
Ensembl chr 9:86,436,430...86,453,895 		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 chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		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 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		JBrowse link
G Cd40 CD40 antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM ClinVar PMID:9746782 PMID:15358621 PMID:17351759 PMID:19575287 PMID:20301576 More... NCBI chr  X:56,257,503...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:114,268,427...114,277,382
Ensembl chr 5:114,268,447...114,277,384 		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 Il6ra interleukin 6 receptor, alpha 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 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		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 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564 		JBrowse link
G Tlr9 toll-like receptor 9 IMP associated with Lupus Erythematosus, Systemic RGD PMID:23467932 RGD:7245987 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
Hypergastrinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reg1 regenerating islet-derived 1 ISO mRNA:increased expression:gastric corpus (human) RGD PMID:10348814 RGD:9850135 NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650 		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 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		JBrowse link
G Cd40 CD40 antigen ISO DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
Hypoalbuminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO protein:increased expression:serum RGD PMID:9453001 RGD:10046046 NCBI chr 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186 		JBrowse link
G Alb albumin treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10337936 PMID:9034259 RGD:11035279 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Gh growth hormone treatment ISO associated with Sepsis RGD PMID:10923500 RGD:11352734 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
Hypoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin susceptibility ISO RGD PMID:1690892 PMID:7937781 RGD:734959, RGD:1599028 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Apoa1 apolipoprotein A-I ISO RGD PMID:2123716 RGD:1599161 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G B2m beta-2 microglobulin susceptibility ISO RGD PMID:16549777 RGD:1599429 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564 		JBrowse link
G Gh growth hormone treatment ISO associated with Liver Cirrhosis RGD PMID:11986720 RGD:11352738 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Lipc lipase, hepatic ISO protein:reduced expression:plasma (rat) RGD PMID:10844597 RGD:2308785 NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase, polypeptide 1 ISO associated with Liver Cirrhosis, Experimental RGD PMID:16169275 RGD:1643028 NCBI chr11:86,389,695...86,435,711
Ensembl chr11:86,389,697...86,435,631 		JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17088085 PMID:17576681 PMID:21680795 More... NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539 		JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality OMIM
ClinVar		 PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 9:44,290,787...44,303,666
Ensembl chr 9:44,290,787...44,303,666 		JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3kbp1 SH3-domain kinase binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 61 OMIM
ClinVar		 PMID:29636373 NCBI chr  X:158,409,888...158,758,916
Ensembl chr  X:158,410,268...158,761,065 		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 antigen ISO 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 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		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-Coenzyme A carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr 5:114,284,378...114,388,822
Ensembl chr 5:114,284,596...114,388,822 		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 chr 5:114,268,427...114,277,382
Ensembl chr 5:114,268,447...114,277,384 		JBrowse link
immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 OMIM
ClinVar		 PMID:9536098 PMID:11007475 PMID:12910268 PMID:14564357 PMID:14769937 More... NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		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 6:123,239,066...123,252,227
Ensembl chr 6:123,239,070...123,252,224 		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 6:123,258,748...123,266,830
Ensembl chr 6:123,258,748...123,266,829 		JBrowse link
G Clec4n C-type lectin domain family 4, member n ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 6:123,206,802...123,223,983
Ensembl chr 6:123,206,802...123,223,980 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:25741868 NCBI chr 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526 		JBrowse link
Immunoglobulin A Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf13b tumor necrosis factor 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 OMIM
ClinVar		 PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 More... NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		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 chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328 		JBrowse link
G Clec16a C-type lectin domain family 16, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011 PMID:27723758 NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742 		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 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO RGD PMID:22291608 PMID:10931389 RGD:11041755, RGD:11041756 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Icos inducible T cell co-stimulator susceptibility ISO DNA:SNPs,haplotype: :rs4521021,rs10172036(human) RGD PMID:19020530 RGD:11344917 NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011 PMID:27723758 NCBI chr 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599 		JBrowse link
G Pvt1 Pvt1 oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:27723758 NCBI chr15:61,909,835...62,132,064
Ensembl chr15:61,909,835...62,249,945 		JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISS OMIM:137100 | OMIM:269650 | OMIM:609529 MouseDO NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency OMIM
ClinVar		 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 More... NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		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:11956200 PMID:21984432 PMID:22736418 PMID:28492532 NCBI chr  X:133,438,005...133,442,419
Ensembl chr  X:133,438,005...133,442,614 		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 ISO DNA:mutation:cds:p.Ala163Thr (rat) RGD PMID:11208766 RGD:68697 NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828 		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, pentraxin-related disease_progression ISO RGD PMID:7780142 RGD:9585642 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444 		JBrowse link
G Mmab methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human) ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Mevalonic aciduria | ClinVar Annotator: match by term: Periodic fever Dutch type ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:114,569,095...114,582,134
Ensembl chr 5:114,569,095...114,582,121 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Mevalonic aciduria | ClinVar Annotator: match by term: Periodic fever Dutch type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1377680 PMID:9334262 PMID:9536098 PMID:10369261 PMID:10369262 More... NCBI chr 5:114,582,324...114,598,652
Ensembl chr 5:114,582,330...114,598,652 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		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 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Myd88 myeloid differentiation primary response gene 88 IEA MouseDO NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477 		JBrowse link
G Nefh neurofilament, heavy polypeptide ISO associated with Peripheral Nervous System Diseases RGD PMID:12536221 RGD:9693726 NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064 		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 (Junior blood group) treatment ISO RGD PMID:26314844 PMID:16917002 RGD:11081075, RGD:11081144 NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661 		JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO protein:increased activity:serum RGD PMID:22345095 RGD:11038914 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17096887 RGD:11035276 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Arid4a AT rich interactive domain 4A (RBP1-like) ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:71,061,314...71,146,125
Ensembl chr12:71,062,764...71,145,366 		JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Aurka aurora kinase A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:172,198,110...172,212,820
Ensembl chr 2:172,198,110...172,212,455 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:26619011 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:71,066,690...71,142,300
Ensembl chr 1:71,066,657...71,142,305 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Bcl2l1 BCL2-like 1 IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12429644 PMID:14656874 RGD:11353847 NCBI chr 2:152,600,652...152,675,723
Ensembl chr 2:152,622,588...152,673,648 		JBrowse link
G Bcl2l10 Bcl2-like 10 ISO protein:increased expression:bone marrow : RGD PMID:27455953 RGD:14392808 NCBI chr 9:75,255,040...75,258,922
Ensembl chr 9:75,255,040...75,258,931 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:47,430,235...47,496,945
Ensembl chr  X:47,430,235...47,496,926 		JBrowse link
G Bnip3 BCL2/adenovirus E1B interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248 		JBrowse link
G Braf Braf transforming gene 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 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr10:96,452,863...96,458,675
Ensembl chr10:96,452,868...96,458,671 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO mRNA:decreased expression:mononuclear cell: RGD PMID:23948411 RGD:11038794 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		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 chr15:79,800,005...79,855,344
Ensembl chr15:79,800,008...79,855,320 		JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: Multiple myeloma, translocation 11,14 type
CTD Direct Evidence: marker/mechanism
DNA:snp:exon:c.870G>A (rs603965) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... RGD:1581171, RGD:11353784 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:15755896 RGD:1581171 NCBI chr17:47,815,976...47,910,614
Ensembl chr17:47,815,976...47,910,616 		JBrowse link
G Cd40 CD40 antigen treatment ISO human cells in a mouse model RGD PMID:10866315 RGD:11522720 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cd40lg CD40 ligand treatment
disease_progression		 IMP
ISO		 protein:increased expression:serum (human) RGD PMID:15565183 PMID:27243341 PMID:22403003 RGD:11352240, RGD:11352268, RGD:11352251 NCBI chr  X:56,257,503...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO protein:increased expression:plasma cell (human) RGD PMID:16728275 RGD:11352814 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		JBrowse link
G Cd86 CD86 antigen severity ISO protein:increased expression:bone marrow, plasma cell (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16611307 PMID:22705596 RGD:11354971 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		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 chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		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 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Cdkn2c cyclin dependent kinase inhibitor 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:109,518,073...109,523,953
Ensembl chr 4:109,518,073...109,524,386 		JBrowse link
G Cfhr1 complement factor H-related 1 treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010 		JBrowse link
G Chil1 chitinase-like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16930142 RGD:4892645 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919 		JBrowse link
G Crbn cereblon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma		 CTD
ClinVar		 PMID:26186254 NCBI chr 6:106,755,205...106,777,060
Ensembl chr 6:106,757,162...106,777,038 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO CTD Direct Evidence: therapeutic CTD PMID:7540856 PMID:8104070 PMID:8555506 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:7534716 PMID:7540856 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,656...89,478,573 		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 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 no_association
treatment		 ISO DNA:polymorphisms: : RGD PMID:17666363 PMID:20684753 RGD:11352748 RGD:11352804 NCBI chr19:39,378,000...39,451,547
Ensembl chr19:39,378,000...39,451,519 		JBrowse link
G Cyp2c66 cytochrome P450, family 2, subfamily c, polypeptide 66 treatment
no_association		 ISO DNA:polymorphisms: : RGD PMID:17666363 PMID:20684753 RGD:11352748, RGD:11352804 NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516 		JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 no_association ISO DNA:polymorphisms: : RGD PMID:20684753 RGD:11352804 NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206 		JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:3,851,559...3,964,443
Ensembl chr12:3,856,007...3,964,443 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:158,155,174...158,172,617
Ensembl chr  X:158,155,174...158,172,924 		JBrowse link
G Eng endoglin severity ISO protein:increased expression:serum: RGD PMID:23576184 RGD:11041181 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal no_association
susceptibility		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:rs2234922 (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)		 CTD
RGD		 PMID:16949155 PMID:19736056 PMID:24521996 PMID:16949155 RGD:11252116, RGD:11252122, RGD:11252121 NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469 		JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 treatment ISO DNA:SNP: :rs735482 (human) RGD PMID:21435719 RGD:10450871 NCBI chr 7:19,075,769...19,090,449
Ensembl chr 7:19,078,703...19,090,449 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 disease_progression ISO DNA:polymorphism: :p.K751Q (rs13181) (human) RGD PMID:22183071 RGD:11252199 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 7:24,941,985...24,950,529
Ensembl chr 7:24,941,986...24,950,186 		JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) disease_progression ISO RGD PMID:16321857 RGD:11049149 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III disease_progression
susceptibility		 ISO DNA:polymorphism: :rs1801274(human) RGD PMID:25850245 PMID:17315188 RGD:11040778, RGD:11040938 NCBI chr 1:170,878,738...170,893,476
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 CTD
ClinVar		 PMID:1908846 PMID:7773297 PMID:8858131 PMID:9207791 PMID:9677066 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Fgg fibrinogen gamma chain treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356 		JBrowse link
G Flt3 FMS-like tyrosine kinase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299 		JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand disease_progression ISO protein:increased expression:serum: RGD PMID:26521986 RGD:11075232 NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:8599825 RGD:11352777 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 severity
no_association		 ISO RGD PMID:17653713 PMID:15136237 RGD:10450826, RGD:10450846 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		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 chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		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 chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:23,805,760...23,806,541
Ensembl chr13:23,804,612...23,806,541 		JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17283154 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
G H2ac8 H2A clustered histone 8 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:23,754,837...23,755,394
Ensembl chr13:23,754,691...23,755,394 		JBrowse link
G H3c1 H3 clustered histone 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr13:23,945,868...23,946,369
Ensembl chr13:23,945,836...23,946,369 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421 		JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation, haplotype:cds:p.C282Y (human) RGD PMID:10383894 RGD:8694350 NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837 		JBrowse link
G Hk1 hexokinase 1 ISO RGD PMID:19996089 RGD:11353882 NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 7:140,769,847...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Hspb1 heat shock protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12855565 NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		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 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21889589 PMID:22160010 More... NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO protein:increased expression:serum,urine: RGD PMID:29940770 RGD:14985218 NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551 		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 chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1a interleukin 1 alpha ISO
IMP		 DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)		 RGD PMID:25469832 PMID:1777241 PMID:17926179 RGD:11049156, RGD:11059513, RGD:11051973 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) RGD PMID:17926179 RGD:11051973 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		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 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il4ra interleukin 4 receptor, alpha susceptibility ISO DNA:SNP: :-228120T>C(rs2107356)(human) RGD PMID:17315188 RGD:11040938 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8520508 PMID:12855565 PMID:19330649 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262 		JBrowse link
G Irf4 interferon regulatory factor 4 treatment
disease_progression		 ISO DNA:translocation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18568025 PMID:10557056 PMID:21707574 PMID:17690696 RGD:11526161, RGD:11530055, RGD:11530019 NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959 		JBrowse link
G Kdm5c lysine (K)-specific demethylase 5C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:151,015,698...151,062,098
Ensembl chr  X:151,016,016...151,057,531 		JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781 		JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:25326635 PMID:25741868 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Myelomatosis ClinVar
RGD		 PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... RGD:1581756 NCBI chr 6:145,162,425...145,196,144
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Lats1 large tumor suppressor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:7,556,964...7,592,225
Ensembl chr10:7,556,978...7,592,224 		JBrowse link
G Lig4 ligase IV, DNA, ATP-dependent ISO DNA:polymorphisms
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to		 ClinVar
OMIM
RGD		 PMID:12471202 PMID:24033266 PMID:25741868 PMID:28492532 PMID:12471202 RGD:1600305 NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078