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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.

GViewer not supported for the selected species.

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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 chrNW_004955447:9,327...21,212 JBrowse link
Acquired Protein C Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpine1 serpin family E member 1 ISO associated with Sepsis;protein:increased activity:lung (rat) RGD PMID:18182560 RGD:11080962 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142 		JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chrNW_004955414:21,188,012...21,189,363 JBrowse link
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron:
associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)		 RGD PMID:14687036 PMID:25263931 RGD:11533931 RGD:11533934 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)		 RGD PMID:22925497 PMID:25130874 RGD:11075233 RGD:11075235 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acot8 acyl-CoA thioesterase 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,434,649...11,454,806
Ensembl chrNW_004955445:11,434,082...11,454,806 		JBrowse link
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 OMIM
ClinVar		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488 		JBrowse link
G Ccn5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,623,333...12,640,127
Ensembl chrNW_004955445:12,621,972...12,639,835 		JBrowse link
G Cd247 CD247 molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More... NCBI chrNW_004955462:9,466,706...9,539,897
Ensembl chrNW_004955462:9,469,255...9,538,882 		JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955412:19,464,666...19,476,425
Ensembl chrNW_004955412:19,464,613...19,478,990 		JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chrNW_004955412:19,486,066...19,496,474
Ensembl chrNW_004955412:19,486,284...19,494,922 		JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093 		JBrowse link
G Cdh22 cadherin 22 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,084,448...11,151,871
Ensembl chrNW_004955445:11,084,448...11,151,871 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,399,151...11,405,069
Ensembl chrNW_004955445:11,399,151...11,405,069 		JBrowse link
G Dbndd2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,931,996...11,936,534
Ensembl chrNW_004955445:11,931,200...11,975,660 		JBrowse link
G Dnttip1 deoxynucleotidyltransferase terminal interacting protein 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,479,582...11,501,008
Ensembl chrNW_004955445:11,479,582...11,501,008 		JBrowse link
G Elmo2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:10,943,838...10,982,653
Ensembl chrNW_004955445:10,943,780...10,982,778 		JBrowse link
G Fitm2 fat storage inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:13,027,431...13,032,089 JBrowse link
G Gdap1l1 ganglioside induced differentiation associated protein 1 like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:13,045,864...13,097,447
Ensembl chrNW_004955445:13,045,864...13,072,974 		JBrowse link
G Gtsf1l gametocyte specific factor 1 like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:13,487,498...13,488,284 JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281 		JBrowse link
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:13,542,726...13,580,204
Ensembl chrNW_004955445:13,543,804...13,580,204 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:13,117,312...13,190,061
Ensembl chrNW_004955445:13,118,717...13,187,235 		JBrowse link
G Kcnk15 potassium two pore domain channel subfamily K member 15 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,604,456...12,610,502
Ensembl chrNW_004955445:12,605,208...12,610,458 		JBrowse link
G Kcns1 potassium voltage-gated channel modifier subfamily S member 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,293,394...12,299,741
Ensembl chrNW_004955445:12,293,394...12,299,787 		JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,027,626...12,040,589
Ensembl chrNW_004955445:12,029,882...12,040,335 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Mybl2 MYB proto-oncogene like 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:13,496,919...13,530,689
Ensembl chrNW_004955445:13,496,919...13,530,689 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:25326637 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chrNW_004955417:6,840,916...6,880,479
Ensembl chrNW_004955417:6,839,312...6,880,133 		JBrowse link
G Ncoa5 nuclear receptor coactivator 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,219,630...11,251,856
Ensembl chrNW_004955445:11,219,630...11,251,856 		JBrowse link
G Neurl2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,405,195...11,407,819
Ensembl chrNW_004955445:11,405,195...11,407,819 		JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:12604777 PMID:16439204 PMID:16439205 PMID:16571728 PMID:20597108 More... NCBI chrNW_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876 		JBrowse link
G Ocstamp osteoclast stimulatory transmembrane protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:10,836,404...10,842,811
Ensembl chrNW_004955445:10,836,545...10,842,410 		JBrowse link
G Oser1 oxidative stress responsive serine rich 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:13,097,438...13,111,825
Ensembl chrNW_004955445:13,099,747...13,115,284 		JBrowse link
G Pabpc1l poly(A) binding protein cytoplasmic 1 like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,425,738...12,450,830
Ensembl chrNW_004955445:12,422,204...12,450,024 		JBrowse link
G Pcif1 phosphorylated CTD interacting factor 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,355,227...11,368,392
Ensembl chrNW_004955445:11,355,227...11,368,392 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,916,898...11,925,578
Ensembl chrNW_004955445:11,915,225...11,925,820 		JBrowse link
G Pkig cAMP-dependent protein kinase inhibitor gamma ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,717,962...12,818,734
Ensembl chrNW_004955445:12,717,962...12,818,734 		JBrowse link
G Pltp phospholipid transfer protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,384,723...11,399,217
Ensembl chrNW_004955445:11,384,723...11,399,217 		JBrowse link
G R3hdml R3H domain containing like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,991,667...13,004,174
Ensembl chrNW_004955445:12,991,753...13,003,649 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 ClinVar PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 More... NCBI chrNW_004955422:9,891,878...9,928,569
Ensembl chrNW_004955422:9,891,878...9,919,504 		JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:15025726 PMID:24174341 PMID:25741868 PMID:26457731 PMID:28492532 More... NCBI chrNW_004955422:9,867,307...9,869,732
Ensembl chrNW_004955422:9,867,307...9,869,732 		JBrowse link
G Rbpjl recombination signal binding protein for immunoglobulin kappa J region like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,017,500...12,029,507
Ensembl chrNW_004955445:12,017,500...12,029,507 		JBrowse link
G Rims4 regulating synaptic membrane exocytosis 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,542,824...12,604,355
Ensembl chrNW_004955445:12,542,818...12,604,355 		JBrowse link
G Sdc4 syndecan 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,990,916...12,009,178
Ensembl chrNW_004955445:11,990,792...12,011,553 		JBrowse link
G Serinc3 serine incorporator 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,837,616...12,868,631
Ensembl chrNW_004955445:12,837,586...12,865,758 		JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,252,732...11,290,890
Ensembl chrNW_004955445:11,252,732...11,291,501 		JBrowse link
G Slc13a3 solute carrier family 13 member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:10,755,336...10,829,797
Ensembl chrNW_004955445:10,755,312...10,831,900 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:10,708,147...10,722,109
Ensembl chrNW_004955445:10,709,681...10,722,264 		JBrowse link
G Slc35c2 solute carrier family 35 member C2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:10,984,675...10,996,707
Ensembl chrNW_004955445:10,984,237...10,996,707 		JBrowse link
G Snx21 sorting nexin family member 21 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,454,802...11,462,625
Ensembl chrNW_004955445:11,454,802...11,462,625 		JBrowse link
G Spata25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,408,552...11,409,730
Ensembl chrNW_004955445:11,408,552...11,409,730 		JBrowse link
G Stk4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,308,285...12,399,012
Ensembl chrNW_004955445:12,308,285...12,399,012 		JBrowse link
G Sys1 SYS1 golgi trafficking protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,934,907...11,975,670
Ensembl chrNW_004955445:11,931,200...11,975,660 		JBrowse link
G Tnnc2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,466,579...11,469,123
Ensembl chrNW_004955445:11,466,579...11,469,123 		JBrowse link
G Tomm34 translocase of outer mitochondrial membrane 34 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,401,348...12,420,548
Ensembl chrNW_004955445:12,401,285...12,419,607 		JBrowse link
G Tox2 TOX high mobility group box family member 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:13,210,606...13,343,344
Ensembl chrNW_004955445:13,208,413...13,314,827 		JBrowse link
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:10,734,723...10,737,445
Ensembl chrNW_004955445:10,734,723...10,738,570 		JBrowse link
G Tp53tg5 TP53 target 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,958,649...11,962,623
Ensembl chrNW_004955445:11,958,625...11,962,508 		JBrowse link
G Ttpal alpha tocopherol transfer protein like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,871,355...12,897,733
Ensembl chrNW_004955445:12,871,355...12,897,733 		JBrowse link
G Ube2c ubiquitin conjugating enzyme E2 C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,474,826...11,479,479
Ensembl chrNW_004955445:11,469,063...11,478,759 		JBrowse link
G Wfdc2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,723,634...11,730,304
Ensembl chrNW_004955445:11,721,674...11,730,302 		JBrowse link
G Wfdc3 WAP four-disulfide core domain 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,501,044...11,512,109
Ensembl chrNW_004955445:11,502,918...11,512,143 		JBrowse link
G Wfdc5 WAP four-disulfide core domain 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,279,799...12,284,819
Ensembl chrNW_004955445:12,279,799...12,283,506 		JBrowse link
G Wfdc8 WAP four-disulfide core domain 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,666,987...11,682,180 JBrowse link
G Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:12,451,644...12,474,251
Ensembl chrNW_004955445:12,448,760...12,474,251 		JBrowse link
G Znf335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,334,742...11,354,584
Ensembl chrNW_004955445:11,335,908...11,354,300 		JBrowse link
G Zswim1 zinc finger SWIM-type containing 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,411,540...11,415,074
Ensembl chrNW_004955445:11,410,660...11,434,280 		JBrowse link
G Zswim3 zinc finger SWIM-type containing 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004955445:11,416,346...11,434,298
Ensembl chrNW_004955445:11,416,346...11,434,298 		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		 RGD
CTD		 PMID:10583958 RGD:1600518 NCBI chrNW_004955507:2,398,694...2,466,461
Ensembl chrNW_004955507:2,397,400...2,466,788 		JBrowse link
G Btk Bruton tyrosine kinase susceptibility ISO DNA:insertions, point mutations
CTD Direct Evidence: therapeutic		 RGD
CTD		 PMID:8162018 PMID:15142874 RGD:1600526 NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120 		JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chrNW_004955493:6,540,160...6,544,077 JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955555:961,522...965,605
Ensembl chrNW_004955555:961,522...965,605 		JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166 		JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:14660746 RGD:1599837 NCBI chrNW_004955570:1,270,710...1,295,658
Ensembl chrNW_004955570:1,271,131...1,295,773 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487 		JBrowse link
agammaglobulinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 More... NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120 		JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955555:961,522...965,605
Ensembl chrNW_004955555:961,522...965,605 		JBrowse link
agammaglobulinemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:33951726 NCBI chrNW_004955422:873,735...886,560
Ensembl chrNW_004955422:873,735...886,560 		JBrowse link
agammaglobulinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004955455:8,472,833...8,474,745
Ensembl chrNW_004955455:8,472,833...8,479,129 		JBrowse link
G CUNH22orf15 chromosome unknown C22orf15 homolog ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955455:8,474,717...8,478,840
Ensembl chrNW_004955455:8,470,295...8,477,310 		JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955455:8,415,868...8,418,753
Ensembl chrNW_004955455:8,415,839...8,421,762 		JBrowse link
G Mif macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955455:8,458,622...8,464,037
Ensembl chrNW_004955455:8,459,428...8,469,053 		JBrowse link
G Slc2a11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955455:8,374,144...8,399,766
Ensembl chrNW_004955455:8,370,418...8,399,779 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097 		JBrowse link
G Vpreb3 V-set pre-B cell surrogate light chain 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955455:8,483,685...8,485,514
Ensembl chrNW_004955455:8,484,198...8,485,357 		JBrowse link
G Znf70 zinc finger protein 70 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955455:8,486,052...8,492,437
Ensembl chrNW_004955455:8,490,100...8,491,440 		JBrowse link
agammaglobulinemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive | ClinVar Annotator: match by term: CD79A-related condition OMIM
ClinVar		 PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955555:961,522...965,605
Ensembl chrNW_004955555:961,522...965,605 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955555:969,345...976,122
Ensembl chrNW_004955555:969,340...976,509 		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 chrNW_004955507:1,892,087...1,946,526
Ensembl chrNW_004955507:1,892,061...1,946,703 		JBrowse link
G Blnk B cell linker ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive | ClinVar Annotator: match by term: B cell linker protein deficiency OMIM
ClinVar		 PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004955507:2,398,694...2,466,461
Ensembl chrNW_004955507:2,397,400...2,466,788 		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 chrNW_004955507:2,160,454...2,262,333
Ensembl chrNW_004955507:2,170,828...2,260,580 		JBrowse link
G Ccnj cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955507:2,274,695...2,293,637
Ensembl chrNW_004955507:2,274,702...2,293,637 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955507:2,035,918...2,141,327
Ensembl chrNW_004955507:2,036,050...2,137,377 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955507:1,972,645...1,993,967
Ensembl chrNW_004955507:1,973,500...1,994,609 		JBrowse link
G Znf518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:25741868 More... NCBI chrNW_004955507:2,350,734...2,377,855
Ensembl chrNW_004955507:2,373,166...2,377,611 		JBrowse link
agammaglobulinemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955570:1,270,710...1,295,658
Ensembl chrNW_004955570:1,271,131...1,295,773 		JBrowse link
agammaglobulinemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166 		JBrowse link
agammaglobulinemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive OMIM
ClinVar		 PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25488983 More... NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820 		JBrowse link
Agammaglobulinemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: TCF3-related condition ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34618307 NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487 		JBrowse link
agammaglobulinemia 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 More... NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487 		JBrowse link
agammaglobulinemia 8B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307 NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487 		JBrowse link
agammaglobulinemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive | ClinVar Annotator: match by term: SLC39A7-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30718914 NCBI chrNW_004955437:1,774,301...1,778,092
Ensembl chrNW_004955437:1,774,301...1,778,092 		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 chrNW_004955447:9,327...21,212 JBrowse link
Anhaptoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Anhaptoglobinemia ClinVar PMID:25741868 NCBI chrNW_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616 		JBrowse link
antithrombin III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:13,842,571...13,882,625
Ensembl chrNW_004955406:13,846,452...13,872,411 		JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:14,823,509...14,840,127 JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:13,949,697...13,963,827
Ensembl chrNW_004955406:13,949,697...13,963,827 		JBrowse link
G Cop1 COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:15,662,546...15,859,306
Ensembl chrNW_004955406:15,662,546...15,859,306 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:13,964,087...13,991,691
Ensembl chrNW_004955406:13,964,087...13,991,691 		JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:14,415,252...14,420,251
Ensembl chrNW_004955406:14,415,252...14,420,251 		JBrowse link
G Kiaa0040 KIAA0040 ortholog ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:14,960,837...14,961,459 JBrowse link
G Klhl20 kelch like family member 20 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:13,891,589...13,938,964
Ensembl chrNW_004955406:13,891,571...13,938,964 		JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:14,844,301...14,847,389
Ensembl chrNW_004955406:14,844,301...14,847,389 		JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:13,717,267...13,728,216
Ensembl chrNW_004955406:13,717,267...13,728,216 		JBrowse link
G Rabgap1l RAB GTPase activating protein 1 like ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:14,216,549...14,815,052
Ensembl chrNW_004955406:14,262,738...14,815,052 		JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar PMID:3663935 PMID:10823268 PMID:16956830 PMID:21264449 PMID:24889358 More... NCBI chrNW_004955406:14,053,122...14,123,023
Ensembl chrNW_004955406:14,053,122...14,123,029 		JBrowse link
G Serpinc1 serpin family C member 1 susceptibility ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency | ClinVar Annotator: match by term: Reduced antithrombin III activity OMIM
ClinVar
RGD		 PMID:1325679 PMID:1360174 PMID:1421387 PMID:1469094 PMID:1483705 More... RGD:1599321 NCBI chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948 		JBrowse link
G Slc9c2 solute carrier family 9 member C2 (putative) ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:13,734,098...13,838,966
Ensembl chrNW_004955406:13,734,811...13,838,989 		JBrowse link
G Tex50 testis expressed 50 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:13,859,967...13,864,308 JBrowse link
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:13,391,162...13,402,479 JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:13,477,077...13,493,309
Ensembl chrNW_004955406:13,477,077...13,493,309 		JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:14,882,414...14,950,572
Ensembl chrNW_004955406:14,882,245...14,950,587 		JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:15,007,248...15,512,219
Ensembl chrNW_004955406:15,088,843...15,282,937 		JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004955406:14,000,003...14,028,673
Ensembl chrNW_004955406:14,000,282...14,011,645 		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: APTX-related condition | ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
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:1599207 NCBI chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955559:1,064,924...1,070,120 JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021 		JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcd protein kinase C delta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar		 PMID:9536098 PMID:11976687 PMID:16199547 PMID:17576681 PMID:23319571 More... NCBI chrNW_004955430:3,125,066...3,151,857
Ensembl chrNW_004955430:3,124,738...3,153,274 		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 chrNW_004955430:3,055,766...3,096,501
Ensembl chrNW_004955430:3,052,368...3,096,726 		JBrowse link
autosomal dominant thrombophilia due to protein C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ammecr1l AMMECR1 like ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:2,654,361...2,678,080
Ensembl chrNW_004955459:2,654,361...2,678,080 		JBrowse link
G Bin1 bridging integrator 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:3,376,149...3,423,157
Ensembl chrNW_004955459:3,399,611...3,422,621 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:3,210,936...3,238,401
Ensembl chrNW_004955459:3,210,479...3,242,576 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:2,890,266...2,903,053
Ensembl chrNW_004955459:2,890,266...2,903,053 		JBrowse link
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:2,273,100...2,310,993
Ensembl chrNW_004955459:2,273,100...2,310,993 		JBrowse link
G Iws1 interacts with SUPT6H, CTD assembly factor 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:3,021,320...3,063,363
Ensembl chrNW_004955459:3,021,764...3,063,128 		JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:2,874,282...2,913,956
Ensembl chrNW_004955459:2,864,580...2,914,263 		JBrowse link
G Map3k2 mitogen-activated protein kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:3,135,959...3,196,971
Ensembl chrNW_004955459:3,136,010...3,196,971 		JBrowse link
G Myo7b myosin VIIB ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:2,914,409...2,990,591
Ensembl chrNW_004955459:2,914,628...2,976,436 		JBrowse link
G Polr2d RNA polymerase II subunit D ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:2,687,005...2,696,388
Ensembl chrNW_004955459:2,686,792...2,696,388 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital protein C deficiency | ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant OMIM
ClinVar		 PMID:1301954 PMID:1301959 PMID:1347608 PMID:1464619 PMID:1469096 More... NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135 		JBrowse link
G Sap130 Sin3A associated protein 130 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:2,529,373...2,602,864
Ensembl chrNW_004955459:2,529,373...2,602,864 		JBrowse link
G Sft2d3 SFT2 domain containing 3 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:2,842,452...2,845,045 JBrowse link
G Uggt1 UDP-glucose glycoprotein glucosyltransferase 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:2,347,946...2,461,174
Ensembl chrNW_004955459:2,347,946...2,461,392 		JBrowse link
G Wdr33 WD repeat domain 33 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004955459:2,740,465...2,841,376
Ensembl chrNW_004955459:2,740,466...2,841,376 		JBrowse link
autosomal dominant thrombophilia due to protein S deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pros1 protein S ISO ClinVar Annotator: match by term: PROS1-related condition | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant OMIM
ClinVar		 PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 More... NCBI chrNW_004955407:3,514,900...3,566,165
Ensembl chrNW_004955407:3,535,388...3,565,058 		JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 OMIM
ClinVar		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chrNW_004955402:46,242,329...46,298,157
Ensembl chrNW_004955402:46,264,164...46,296,368 		JBrowse link
autosomal recessive thrombophilia due to protein C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive OMIM
ClinVar		 PMID:1301954 PMID:1301959 PMID:1347608 PMID:1347706 PMID:1348046 More... NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135 		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 ARF like GTPase 13B ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 NCBI chrNW_004955407:3,402,214...3,477,839
Ensembl chrNW_004955407:3,402,908...3,460,105 		JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 NCBI chrNW_004955407:3,322,246...3,397,289
Ensembl chrNW_004955407:3,342,876...3,397,150 		JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive OMIM
ClinVar		 PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2521801 More... NCBI chrNW_004955407:3,514,900...3,566,165
Ensembl chrNW_004955407:3,535,388...3,565,058 		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 chrNW_004955407:3,397,284...3,437,421
Ensembl chrNW_004955407:3,397,284...3,437,421 		JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM ClinVar PMID:25741868 PMID:29884852 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093 		JBrowse link
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome OMIM
ClinVar
RGD		 PMID:21841160 PMID:25741868 PMID:28492532 RGD:5490298 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746 		JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356 		JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,568,455...9,583,279
Ensembl chrNW_004955467:9,563,933...9,583,273 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:8,876,186...8,887,980
Ensembl chrNW_004955467:8,876,027...8,888,033 		JBrowse link
G Alox15b arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:8,896,740...8,906,032
Ensembl chrNW_004955467:8,895,095...8,906,009 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:8,844,805...8,869,230
Ensembl chrNW_004955467:8,844,805...8,869,964 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,728,918...9,732,548
Ensembl chrNW_004955467:9,729,345...9,732,355 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,261,775...9,268,743
Ensembl chrNW_004955467:9,261,775...9,268,743 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:8,715,387...8,720,889
Ensembl chrNW_004955467:8,715,136...8,723,932 		JBrowse link
G Bacc1 BPTF associated chromatin complex component 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,911,925...9,914,811
Ensembl chrNW_004955467:9,911,660...9,916,106 		JBrowse link
G Bcl6b BCL6B transcription repressor ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,900,392...9,906,610
Ensembl chrNW_004955467:9,900,392...9,906,705 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:8,766,322...8,769,169 JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:11472359 PMID:18241230 PMID:25741868 PMID:28492532 NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120 		JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chrNW_004955493:6,540,160...6,544,077 JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9150729 PMID:9746782 PMID:15358621 PMID:25741868 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746 		JBrowse link
G Cd68 CD68 molecule ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836 		JBrowse link
G Cd81 CD81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955422:14,155,682...14,175,181
Ensembl chrNW_004955422:14,155,682...14,175,181 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,024,112...9,050,062
Ensembl chrNW_004955467:9,029,265...9,050,718 		JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,471,962...9,482,370
Ensembl chrNW_004955467:9,471,962...9,482,370 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,652,093...9,654,291
Ensembl chrNW_004955467:9,652,093...9,654,291 		JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:8,993,528...9,010,829
Ensembl chrNW_004955467:8,993,952...9,009,928 		JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955406:42,877,041...42,910,970
Ensembl chrNW_004955406:42,876,966...42,911,564 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,660,088...9,666,878
Ensembl chrNW_004955467:9,660,288...9,666,878 		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 chrNW_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872 		JBrowse link
G Dnah2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,107,089...9,210,941
Ensembl chrNW_004955467:9,107,295...9,210,941 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,675,912...9,683,996
Ensembl chrNW_004955467:9,675,912...9,683,996 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,217,796...9,225,223
Ensembl chrNW_004955467:9,217,796...9,224,940 		JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,344,629...9,351,028
Ensembl chrNW_004955467:9,345,153...9,350,955 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,603,800...9,608,490 JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,654,532...9,660,035
Ensembl chrNW_004955467:9,651,219...9,659,502 		JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:12,257,700...12,264,977
Ensembl chrNW_004955467:12,257,700...12,264,977 		JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,482,467...9,488,992
Ensembl chrNW_004955467:9,482,467...9,488,992 		JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,312,548...9,332,674
Ensembl chrNW_004955467:9,312,548...9,332,674 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,667,938...9,670,067
Ensembl chrNW_004955467:9,667,941...9,670,067 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,600,829...9,604,148
Ensembl chrNW_004955467:9,600,829...9,603,606 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:8,938,057...8,949,684
Ensembl chrNW_004955467:8,938,057...8,949,684 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:8,837,895...8,841,062
Ensembl chrNW_004955467:8,837,886...8,841,739 		JBrowse link
G Icos inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism
OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767		 CTD
MouseDO		 NCBI chrNW_004955457:10,934,390...10,952,318
Ensembl chrNW_004955457:10,934,341...10,952,404 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:11590134 PMID:15229184 PMID:20529958 PMID:25741868 PMID:28993958 NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955456:3,617,988...3,721,791
Ensembl chrNW_004955456:3,635,380...3,721,791 		JBrowse link
G Il21 interleukin 21 ISO ClinVar Annotator: match by term: IL21 DEFICIENCY ClinVar PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492 		JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chrNW_004955493:5,613,704...5,646,692
Ensembl chrNW_004955493:5,613,564...5,650,583 		JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,013,279...9,020,716
Ensembl chrNW_004955467:9,013,279...9,020,716 		JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,564,905...9,567,020 JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,085,239...9,106,658
Ensembl chrNW_004955467:9,086,204...9,094,404 		JBrowse link
G LOC102029382 cytochrome b5 domain-containing protein 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,077,537...9,081,759
Ensembl chrNW_004955467:9,077,537...9,081,759 		JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chrNW_004955496:5,744,374...5,837,974
Ensembl chrNW_004955496:5,744,250...5,841,293 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) RGD PMID:10652157 RGD:4889436 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006 		JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,335,488...9,339,888
Ensembl chrNW_004955467:9,335,488...9,339,874 		JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955511:5,252,934...5,263,961
Ensembl chrNW_004955511:5,258,341...5,267,113 		JBrowse link
G Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,082,104...9,083,024
Ensembl chrNW_004955467:9,082,244...9,082,977 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,588,651...9,600,680
Ensembl chrNW_004955467:9,588,651...9,600,680 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:16199547 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29477724 More... NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More... NCBI chrNW_004955485:7,994,730...8,001,776
Ensembl chrNW_004955485:7,994,874...8,000,444 		JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,504,974...9,520,059
Ensembl chrNW_004955467:9,504,974...9,520,059 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188 		JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:8,798,436...8,813,369
Ensembl chrNW_004955467:8,797,912...8,813,365 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,671,133...9,675,434
Ensembl chrNW_004955467:9,671,133...9,675,434 		JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,534,462...9,539,738
Ensembl chrNW_004955467:9,535,261...9,539,738 		JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,423,540...9,447,530
Ensembl chrNW_004955467:9,421,256...9,447,530 		JBrowse link
G Psd pleckstrin and Sec7 domain containing ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More... NCBI chrNW_004955485:7,979,654...7,994,662
Ensembl chrNW_004955485:7,979,654...7,994,662 		JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 More... NCBI chrNW_004955422:9,867,307...9,869,732
Ensembl chrNW_004955422:9,867,307...9,869,732 		JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,914,907...9,917,051
Ensembl chrNW_004955467:9,914,907...9,917,051 		JBrowse link
G Sat2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,306,210...9,308,668
Ensembl chrNW_004955467:9,305,746...9,308,668 		JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,301,173...9,305,010 JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:12,181,555...12,217,280
Ensembl chrNW_004955467:12,182,766...12,216,842 		JBrowse link
G Slc16a11 solute carrier family 16 member 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,891,909...9,894,192
Ensembl chrNW_004955467:9,891,512...9,894,192 		JBrowse link
G Slc16a13 solute carrier family 16 member 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,894,833...9,900,295
Ensembl chrNW_004955467:9,894,833...9,900,295 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,630,304...9,636,005
Ensembl chrNW_004955467:9,630,304...9,636,005 		JBrowse link
G Slc35g6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,447,756...9,450,653 JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,333,620...9,335,498
Ensembl chrNW_004955467:9,333,643...9,335,498 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,503,229...9,504,535
Ensembl chrNW_004955467:9,503,229...9,504,535 		JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,493,708...9,500,466
Ensembl chrNW_004955467:9,498,541...9,500,466 		JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:12,278,515...12,301,736
Ensembl chrNW_004955467:12,276,702...12,301,630 		JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,489,867...9,493,275
Ensembl chrNW_004955467:9,489,867...9,493,275 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:8,777,078...8,779,164
Ensembl chrNW_004955467:8,777,071...8,779,164 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,520,854...9,522,051
Ensembl chrNW_004955467:9,520,854...9,522,045 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,083,623...9,084,834
Ensembl chrNW_004955467:9,083,623...9,084,834 		JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,562,723...9,564,818
Ensembl chrNW_004955467:9,562,723...9,564,818 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset ClinVar PMID:8072530 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 More... NCBI chrNW_004955577:930,612...971,698 JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive ClinVar PMID:28492532 NCBI chrNW_004955413:27,341,977...27,344,009 JBrowse link
G Tnk1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,539,693...9,547,419
Ensembl chrNW_004955467:9,539,693...9,547,279 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928 		JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,010,936...9,012,796
Ensembl chrNW_004955467:9,011,138...9,012,796 		JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32499645 More... NCBI chrNW_004955441:13,804,791...13,915,969
Ensembl chrNW_004955441:13,793,216...13,916,423 		JBrowse link
G Vamp2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:8,793,296...8,796,771
Ensembl chrNW_004955467:8,793,296...8,796,771 		JBrowse link
G Wrap53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,225,506...9,240,756 JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:12,240,075...12,257,595 JBrowse link
G Ybx2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,624,506...9,629,904
Ensembl chrNW_004955467:9,624,019...9,629,904 		JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955467:9,452,423...9,470,494
Ensembl chrNW_004955467:9,453,493...9,470,482 		JBrowse link
common variable immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi2 abl interactor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:11,451,851...11,562,692
Ensembl chrNW_004955457:11,451,851...11,562,696 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955403:22,449...104,577
Ensembl chrNW_004955403:22,449...104,948 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:12,235,780...12,315,680
Ensembl chrNW_004955457:12,235,780...12,316,727 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955493:8,356,859...8,518,863 JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:11,853,256...11,947,909
Ensembl chrNW_004955457:11,896,492...11,936,229 		JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053 		JBrowse link
G Cd28 CD28 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:11,159,769...11,253,099
Ensembl chrNW_004955457:11,162,282...11,192,991 		JBrowse link
G Cdk15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:12,878,736...12,966,434
Ensembl chrNW_004955457:12,880,959...12,966,410 		JBrowse link
G Cflar CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955403:415,092...442,214
Ensembl chrNW_004955403:412,632...434,741 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460 		JBrowse link
G Fam117b family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:12,107,141...12,180,614 JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955403:264,969...321,370
Ensembl chrNW_004955403:264,980...321,484 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:12,729,277...12,733,057
Ensembl chrNW_004955457:12,731,279...12,732,979 		JBrowse link
G Ica1l islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:11,983,201...12,085,870
Ensembl chrNW_004955457:12,006,306...12,085,799 		JBrowse link
G Icos inducible T cell costimulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 OMIM
ClinVar		 PMID:9536098 PMID:11343122 PMID:11956294 PMID:12353035 PMID:12577056 More... NCBI chrNW_004955457:10,934,390...10,952,318
Ensembl chrNW_004955457:10,934,341...10,952,404 		JBrowse link
G LOC102029370 cytochrome P450 20A1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:11,585,851...11,646,764
Ensembl chrNW_004955457:11,584,584...11,647,153 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955403:109,353...147,442
Ensembl chrNW_004955403:109,353...147,035 		JBrowse link
G Nbeal1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:11,671,565...11,839,357
Ensembl chrNW_004955457:11,671,565...11,839,211 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955403:477,138...483,122
Ensembl chrNW_004955403:477,144...483,122 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:24140114 PMID:28492532 NCBI chrNW_004955485:7,994,730...8,001,776
Ensembl chrNW_004955485:7,994,874...8,000,444 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:12,481,467...12,511,678
Ensembl chrNW_004955457:12,479,965...12,511,678 		JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:11,394,572...11,462,617 JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955403:181,120...198,882
Ensembl chrNW_004955403:181,120...198,885 		JBrowse link
G Sumo1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:12,538,974...12,565,803
Ensembl chrNW_004955457:12,538,480...12,565,803 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955403:148,181...173,350
Ensembl chrNW_004955403:148,183...172,386 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chrNW_004955577:930,612...971,698 JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955403:205,372...261,210
Ensembl chrNW_004955403:206,146...261,326 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004955457:11,947,816...11,970,066
Ensembl chrNW_004955457:11,947,915...11,971,805 		JBrowse link
common variable immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 More... NCBI chrNW_004955485:7,994,730...8,001,776
Ensembl chrNW_004955485:7,994,874...8,000,444 		JBrowse link
G Psd pleckstrin and Sec7 domain containing ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 ClinVar PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More... NCBI chrNW_004955485:7,979,654...7,994,662
Ensembl chrNW_004955485:7,979,654...7,994,662 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955414:19,652,990...19,849,353
Ensembl chrNW_004955414:19,652,990...19,847,964 		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 chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492 		JBrowse link
common variable immunodeficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 | ClinVar Annotator: match by term: NFKB1-related condition OMIM
ClinVar		 PMID:9383370 PMID:11583829 PMID:16199547 PMID:16639407 PMID:25741868 More... NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885 		JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chrNW_004955468:2,680,934...2,688,797
Ensembl chrNW_004955468:2,680,806...2,689,155 		JBrowse link
common variable immunodeficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: IKZF1-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 OMIM
ClinVar		 PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:27993330 More... NCBI chrNW_004955456:3,617,988...3,721,791
Ensembl chrNW_004955456:3,635,380...3,721,791 		JBrowse link
common variable immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid4b AT-rich interaction domain 4B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:4,593,335...4,730,073
Ensembl chrNW_004955492:4,593,335...4,730,073 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:4,472,585...4,502,704
Ensembl chrNW_004955492:4,472,587...4,501,531 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144 		JBrowse link
G Gng4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:4,380,198...4,432,551
Ensembl chrNW_004955492:4,406,154...4,432,600 		JBrowse link
G Irf2bp2 interferon regulatory factor 2 binding protein 2 ISO ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 PMID:35538558 NCBI chrNW_004955492:4,889,878...4,895,508
Ensembl chrNW_004955492:4,889,878...4,894,325 		JBrowse link
G Kcnk1 potassium two pore domain channel subfamily K member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:5,805,170...5,846,402
Ensembl chrNW_004955492:5,805,170...5,846,402 		JBrowse link
G LOC102028200 cytochrome c oxidase assembly factor 6 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:5,316,594...5,324,913 JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:4,161,976...4,371,637
Ensembl chrNW_004955492:4,209,749...4,369,762 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:4,014,912...4,096,659
Ensembl chrNW_004955492:4,014,912...4,096,829 		JBrowse link
G Rbm34 RNA binding motif protein 34 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:4,732,249...4,754,433
Ensembl chrNW_004955492:4,733,800...4,754,069 		JBrowse link
G Slc35f3 solute carrier family 35 member F3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:5,349,445...5,661,186
Ensembl chrNW_004955492:5,348,949...5,441,865 		JBrowse link
G Tarbp1 TAR (HIV-1) RNA binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:5,252,949...5,313,008
Ensembl chrNW_004955492:5,252,999...5,312,777 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:4,502,705...4,573,126
Ensembl chrNW_004955492:4,502,897...4,558,697 		JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004955492:4,759,438...4,771,060
Ensembl chrNW_004955492:4,759,611...4,769,847 		JBrowse link
Common Variable Immunodeficiency 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ruvbl1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 ClinVar PMID:28782633 NCBI chrNW_004955429:15,598,465...15,632,290
Ensembl chrNW_004955429:15,598,465...15,633,713 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 OMIM
ClinVar		 PMID:25741868 PMID:28782633 NCBI chrNW_004955429:15,637,461...15,652,556
Ensembl chrNW_004955429:15,637,325...15,652,556 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Decreased circulating antibody concentration ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589 		JBrowse link
common variable immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a2 aldehyde dehydrogenase 3 family member A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:141,592...162,376
Ensembl chrNW_004955467:140,760...162,742 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,104,445...11,128,980
Ensembl chrNW_004955478:11,105,920...11,128,222 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,249,073...11,264,249
Ensembl chrNW_004955478:11,248,781...11,267,158 		JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:405,487...415,887
Ensembl chrNW_004955467:405,490...416,116 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955493:6,540,160...6,544,077 JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:639,616...664,390
Ensembl chrNW_004955577:638,749...664,390 		JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955406:42,877,041...42,910,970
Ensembl chrNW_004955406:42,876,966...42,911,564 		JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,193,245...11,210,917
Ensembl chrNW_004955478:11,193,245...11,210,914 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:419,342...505,909
Ensembl chrNW_004955467:419,289...506,092 		JBrowse link
G Fam83g family with sequence similarity 83 member G ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:594,921...623,661
Ensembl chrNW_004955467:595,490...623,566 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:672,774...694,140
Ensembl chrNW_004955577:672,410...694,140 		JBrowse link
G Flii FLII actin remodeling protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,061,728...11,075,370
Ensembl chrNW_004955478:11,062,707...11,075,117 		JBrowse link
G Gid4 GID complex subunit 4 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,223,083...11,242,986
Ensembl chrNW_004955478:11,226,449...11,243,935 		JBrowse link
G Grap GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:559,411...581,098
Ensembl chrNW_004955467:559,397...581,098 		JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,075,399...11,089,818
Ensembl chrNW_004955478:11,075,399...11,089,839 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:381,801...387,078
Ensembl chrNW_004955467:378,156...386,532 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:455,879...470,126
Ensembl chrNW_004955577:454,715...470,152 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:378,389...381,593
Ensembl chrNW_004955467:377,887...381,593 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,056,489...11,063,142
Ensembl chrNW_004955478:11,057,462...11,061,852 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:705,435...838,948
Ensembl chrNW_004955577:705,435...838,948 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,131,908...11,186,465
Ensembl chrNW_004955478:11,132,719...11,186,378 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:582,206...608,614 JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:365,031...443,138
Ensembl chrNW_004955577:367,288...443,138 		JBrowse link
G Pld6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:698,741...702,977 JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase associated protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:676,845...722,175
Ensembl chrNW_004955467:676,195...722,233 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:185,404...296,613
Ensembl chrNW_004955577:183,051...200,139 		JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:452,993...454,659
Ensembl chrNW_004955577:452,993...454,713 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:349,703...355,922
Ensembl chrNW_004955467:349,256...355,922 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202 		JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:581,120...654,441
Ensembl chrNW_004955467:581,129...654,639 		JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,002,174...11,015,123
Ensembl chrNW_004955478:11,002,174...11,015,123 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 OMIM
ClinVar		 PMID:8072530 PMID:9536098 PMID:16007086 PMID:16007087 PMID:16199547 More... NCBI chrNW_004955577:930,612...971,698 JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955413:27,341,977...27,344,009 JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:93,877...153,381
Ensembl chrNW_004955577:93,480...153,437 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,015,378...11,045,717
Ensembl chrNW_004955478:11,015,378...11,045,717 		JBrowse link
common variable immunodeficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: CD19-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 3 OMIM
ClinVar		 PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 More... NCBI chrNW_004955493:6,540,160...6,544,077 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 (P1PK blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004955413:28,018,363...28,038,359
Ensembl chrNW_004955413:28,018,451...28,019,509 		JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,027,341...27,065,227
Ensembl chrNW_004955413:27,027,341...27,065,227 		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 chrNW_004955413:27,248,879...27,265,635
Ensembl chrNW_004955413:27,249,272...27,265,635 		JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,349,283...27,360,052
Ensembl chrNW_004955413:27,349,283...27,360,052 		JBrowse link
G Chadl chondroadherin like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004955413:26,846,714...26,862,082
Ensembl chrNW_004955413:26,851,420...26,862,081 		JBrowse link
G Csdc2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,079,280...27,090,082
Ensembl chrNW_004955413:27,079,280...27,090,082 		JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,115,130...27,135,625
Ensembl chrNW_004955413:27,112,974...27,135,625 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933 		JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004955413:26,831,065...26,847,638
Ensembl chrNW_004955413:26,831,066...26,851,859 		JBrowse link
G LOC102012303 NADH-cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004955413:27,971,140...27,979,905
Ensembl chrNW_004955413:27,969,949...27,979,909 		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 chrNW_004955413:27,188,013...27,247,608 JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,463,931...27,472,273
Ensembl chrNW_004955413:27,461,998...27,472,273 		JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004955413:27,485,678...27,491,757
Ensembl chrNW_004955413:27,485,678...27,491,757 		JBrowse link
G Nfam1 NFAT activating protein with ITAM motif 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004955413:27,865,672...27,893,793
Ensembl chrNW_004955413:27,866,271...27,893,844 		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 chrNW_004955413:27,475,658...27,480,879
Ensembl chrNW_004955413:27,475,658...27,480,879 		JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,018,730...27,026,937 JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,090,291...27,097,088
Ensembl chrNW_004955413:27,090,291...27,097,088 		JBrowse link
G Poldip3 DNA polymerase delta interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004955413:27,944,109...27,968,156
Ensembl chrNW_004955413:27,943,520...27,968,156 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,065,785...27,072,432
Ensembl chrNW_004955413:27,065,785...27,072,432 		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 chrNW_004955413:26,869,487...26,894,192
Ensembl chrNW_004955413:26,867,812...26,890,284 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004955413:26,579,759...26,592,980
Ensembl chrNW_004955413:26,579,759...26,592,980 		JBrowse link
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004955413:27,936,427...27,941,311
Ensembl chrNW_004955413:27,933,775...27,941,334 		JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,381,103...27,400,899 JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,328,632...27,330,304 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 chrNW_004955413:27,480,938...27,485,729
Ensembl chrNW_004955413:27,480,938...27,485,729 		JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,160,985...27,172,648
Ensembl chrNW_004955413:27,159,816...27,172,696 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,271,717...27,326,655
Ensembl chrNW_004955413:27,271,953...27,326,759 		JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004955413:27,677,377...27,726,990
Ensembl chrNW_004955413:27,674,787...27,745,528 		JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:26,956,285...26,978,734
Ensembl chrNW_004955413:26,956,285...26,979,045 		JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19666484 PMID:21041452 PMID:25741868 More... NCBI chrNW_004955413:27,341,977...27,344,009 JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:26,999,955...27,010,091
Ensembl chrNW_004955413:26,999,955...27,010,156 		JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,402,614...27,442,106
Ensembl chrNW_004955413:27,402,545...27,436,906 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004955413:26,507,860...26,564,105
Ensembl chrNW_004955413:26,507,860...26,566,826 		JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004955413:27,135,785...27,158,344
Ensembl chrNW_004955413:27,135,805...27,159,750 		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 chrNW_004955413:26,907,883...26,951,352
Ensembl chrNW_004955413:26,925,943...26,951,040 		JBrowse link
common variable immunodeficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ms4a1 membrane spanning 4-domains A1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 | ClinVar Annotator: match by term: MS4A1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004955511:5,252,934...5,263,961
Ensembl chrNW_004955511:5,258,341...5,267,113 		JBrowse link
common variable immunodeficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd81 CD81 molecule ISO ClinVar Annotator: match by term: CD81-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 OMIM
ClinVar		 PMID:20237408 PMID:25741868 PMID:28492532 NCBI chrNW_004955422:14,155,682...14,175,181
Ensembl chrNW_004955422:14,155,682...14,175,181 		JBrowse link
common variable immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4bpa complement component 4 binding protein alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:42,613,659...42,641,918
Ensembl chrNW_004955406:42,613,607...42,641,670 		JBrowse link
G C4bpb complement component 4 binding protein beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:42,601,164...42,608,912 JBrowse link
G Cd34 CD34 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:43,116,688...43,130,405
Ensembl chrNW_004955406:43,117,816...43,130,463 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:43,002,817...43,034,555 JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:42,773,368...42,796,205 JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24029428 More... NCBI chrNW_004955406:42,877,041...42,910,970
Ensembl chrNW_004955406:42,876,966...42,911,564 		JBrowse link
G Fcamr Fc alpha and mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:42,484,811...42,518,714
Ensembl chrNW_004955406:42,484,614...42,496,672 		JBrowse link
G Fcmr Fc mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:42,438,173...42,452,339
Ensembl chrNW_004955406:42,438,783...42,452,163 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:42,376,102...42,384,902
Ensembl chrNW_004955406:42,376,104...42,384,902 		JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:42,398,510...42,401,561
Ensembl chrNW_004955406:42,398,782...42,401,490 		JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:42,431,845...42,437,392
Ensembl chrNW_004955406:42,432,795...42,437,016 		JBrowse link
G LOC102027268 chromosome unknown open reading frame, human C1orf116 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:42,537,925...42,573,168
Ensembl chrNW_004955406:42,525,252...42,558,003 		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 chrNW_004955406:42,573,210...42,601,994
Ensembl chrNW_004955406:42,574,450...42,598,109 		JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955406:42,456,450...42,474,489
Ensembl chrNW_004955406:42,453,080...42,474,694 		JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004955489:3,914,137...4,116,780
Ensembl chrNW_004955489:3,914,633...4,116,825 		JBrowse link
common variable immunodeficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 More... NCBI chrNW_004955471:5,052,535...5,649,696
Ensembl chrNW_004955471:5,053,487...5,649,476 		JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:25640679 PMID:26206937 PMID:26768763 PMID:28492532 NCBI chrNW_004955471:5,296,292...5,298,432
Ensembl chrNW_004955471:5,297,259...5,298,338 		JBrowse link
Congenital Thrombotic Disease, due to Protein C Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Reduced protein C activity ClinVar PMID:1301954 PMID:1301959 PMID:1511988 PMID:1511989 PMID:1596024 More... NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135 		JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Cd86 CD86 molecule ISO associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) RGD PMID:23840845 RGD:11354974 NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO associated with hepatitis C; protein:increased expression:serum RGD PMID:18775023 RGD:27095893 NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927 		JBrowse link
G Tcn2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chrNW_004955455:4,827,030...4,849,810
Ensembl chrNW_004955455:4,826,694...4,849,613 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tslp thymic stromal lymphopoietin ISO MouseDO NCBI chrNW_004955418:4,041,529...4,045,534 JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tslp thymic stromal lymphopoietin ISO associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chrNW_004955418:4,041,529...4,045,534 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 chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746 		JBrowse link
G Ung uracil DNA glycosylase ISO Hyper-IgM syndrome 5, OMIM:608106 RGD PMID:12958596 RGD:1599705 NCBI chrNW_004955455:10,266,989...10,282,196
Ensembl chrNW_004955455:10,266,989...10,282,196 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM
ClinVar		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802 		JBrowse link
Hemoglobin SC Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More... NCBI chrNW_004955414:21,188,012...21,189,363 JBrowse link
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cavin1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004955451:16,364,915...16,374,523
Ensembl chrNW_004955451:16,364,915...16,374,634 		JBrowse link
G Il4r interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:25741868 PMID:32207811 NCBI chrNW_004955446:11,790,636...11,837,734
Ensembl chrNW_004955446:11,790,444...11,835,001 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:9351872 PMID:20106508 PMID:21917754 PMID:25741868 PMID:28492532 NCBI chrNW_004955478:9,788,192...9,830,254
Ensembl chrNW_004955478:9,788,149...9,823,746 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome OMIM
ClinVar		 PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 More... NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004955451:16,305,363...16,319,219
Ensembl chrNW_004955451:16,305,363...16,318,534 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004955451:16,253,645...16,295,337
Ensembl chrNW_004955451:16,255,398...16,272,214 		JBrowse link
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More... NCBI chrNW_004955506:2,783,837...2,840,248
Ensembl chrNW_004955506:2,784,548...2,838,026 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS OMIM
ClinVar		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chrNW_004955434:4,849,147...5,050,545
Ensembl chrNW_004955434:4,867,016...5,049,118 		JBrowse link
G Dock8-as1 DOCK8 antisense RNA 1 ISO ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:14722525 PMID:19776401 PMID:20226292 PMID:20622910 PMID:23859592 More... NCBI chrNW_004955434:4,806,409...4,820,650 JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:28492532 NCBI chrNW_004955434:5,247,278...5,279,043
Ensembl chrNW_004955434:5,191,846...5,279,739 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:33290277 NCBI chrNW_004955434:4,732,584...4,780,990 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 Znf341 zinc finger protein 341 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive | ClinVar Annotator: match by term: ZNF341-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691 NCBI chrNW_004955422:27,537,293...27,583,713
Ensembl chrNW_004955422:27,537,917...27,583,711 		JBrowse link
hyper IgE recurrent infection syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28747427 More... NCBI chrNW_004955446:11,790,636...11,837,734
Ensembl chrNW_004955446:11,790,444...11,835,001 		JBrowse link
hyper IgE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More... NCBI chrNW_004955506:2,783,837...2,840,248
Ensembl chrNW_004955506:2,784,548...2,838,026 		JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome ClinVar PMID:28492532 NCBI chrNW_004955434:5,341,519...5,448,049
Ensembl chrNW_004955434:5,341,286...5,448,235 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chrNW_004955434:4,849,147...5,050,545
Ensembl chrNW_004955434:4,867,016...5,049,118 		JBrowse link
G Dock8-as1 DOCK8 antisense RNA 1 ISO ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:9536098 PMID:14722525 PMID:16199547 PMID:17576681 PMID:19776401 More... NCBI chrNW_004955434:4,806,409...4,820,650 JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chrNW_004955411:10,836,060...10,903,650
Ensembl chrNW_004955411:10,838,271...10,905,256 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955434:5,247,278...5,279,043
Ensembl chrNW_004955434:5,191,846...5,279,739 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chrNW_004955411:10,904,022...10,925,613
Ensembl chrNW_004955411:10,904,022...10,924,216 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 More... NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:33290277 NCBI chrNW_004955434:4,732,584...4,780,990 JBrowse link
hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955455:10,266,989...10,282,196
Ensembl chrNW_004955455:10,266,989...10,282,196 		JBrowse link
Hyper-IgE Recurrent Infection Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive OMIM
ClinVar		 PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509 NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762 		JBrowse link
Hyper-IgE Recurrent Infection Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat6 signal transducer and activator of transcription 6 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections OMIM
ClinVar		 PMID:36884218 PMID:37316763 NCBI chrNW_004955458:4,833,417...4,847,956
Ensembl chrNW_004955458:4,833,515...4,843,273 		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 chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568 		JBrowse link
G Tlr9 toll like receptor 9 ISO associated with Lupus Erythematosus, Systemic RGD PMID:23467932 RGD:7245987 NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582 		JBrowse link
hyperimmunoglobulin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093 		JBrowse link
hyperimmunoglobulinemia D periodic fever syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955455:8,954,099...8,985,170
Ensembl chrNW_004955455:8,954,094...8,965,866 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type OMIM
ClinVar		 PMID:3158961 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 More... NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894 		JBrowse link
G Vps41 VPS41 subunit of HOPS complex ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D ClinVar PMID:25741868 PMID:33764426 PMID:33851776 NCBI chrNW_004955460:4,555,870...4,749,154
Ensembl chrNW_004955460:4,555,870...4,749,153 		JBrowse link
Hypoalbuminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9034259 PMID:10337936 RGD:11035279 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G LOC102021956 alpha-2-macroglobulin ISO protein:increased expression:serum RGD PMID:9453001 RGD:10046046 NCBI chrNW_004955413:6,019,457...6,062,366
Ensembl chrNW_004955413:6,019,082...6,062,529 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362 		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:1599028 RGD:734959 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:2123716 RGD:1599161 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G B2m beta-2-microglobulin susceptibility ISO DNA:transversion:exon;913G>C RGD PMID:16549777 RGD:1599429 NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568 		JBrowse link
G Lipc lipase C, hepatic type ISO protein:reduced expression:plasma (rat) RGD PMID:10844597 RGD:2308785 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO associated with Liver Cirrhosis, Experimental RGD PMID:16169275 RGD:1643028 NCBI chrNW_004955451:3,181,085...3,225,610 JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1m2 adaptor related protein complex 1 subunit mu 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004955495:1,759,247...1,768,479
Ensembl chrNW_004955495:1,759,293...1,767,318 		JBrowse link
G Atg4d autophagy related 4D cysteine peptidase ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004955495:1,739,982...1,746,362
Ensembl chrNW_004955495:1,739,982...1,746,362 		JBrowse link
G Cdc37 cell division cycle 37, HSP90 cochaperone ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004955495:1,642,467...1,651,288
Ensembl chrNW_004955495:1,641,236...1,651,288 		JBrowse link
G Cdkn2d cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004955495:1,755,280...1,759,125
Ensembl chrNW_004955495:1,755,878...1,757,037 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004955495:1,860,644...1,934,589
Ensembl chrNW_004955495:1,860,644...1,934,818 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462 		JBrowse link
G Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004955495:1,590,493...1,594,760
Ensembl chrNW_004955495:1,590,493...1,594,760 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755 		JBrowse link
G Icam4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004955495:1,573,444...1,575,595
Ensembl chrNW_004955495:1,574,341...1,575,442 		JBrowse link
G Icam5 intercellular adhesion molecule 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004955495:1,575,669...1,583,904
Ensembl chrNW_004955495:1,575,669...1,583,910 		JBrowse link
G Ilf3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004955495:1,814,012...1,844,605
Ensembl chrNW_004955495:1,827,860...1,844,369 		JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004955495:1,704,695...1,711,339
Ensembl chrNW_004955495:1,704,695...1,711,290 		JBrowse link
G Kri1 KRI1 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004955495:1,746,060...1,754,883
Ensembl chrNW_004955495:1,746,411...1,754,849 		JBrowse link
G Mrpl4 mitochondrial ribosomal protein L4 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004955495:1,551,181...1,555,976
Ensembl chrNW_004955495:1,550,798...1,556,807 		JBrowse link
G Pde4a phosphodiesterase 4A ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004955495:1,659,499...1,693,609
Ensembl chrNW_004955495:1,663,011...1,691,810 		JBrowse link
G Qtrt1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004955495:1,851,861...1,857,599
Ensembl chrNW_004955495:1,851,995...1,857,527 		JBrowse link
G Raver1 ribonucleoprotein, PTB binding 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004955495:1,594,864...1,609,251
Ensembl chrNW_004955495:1,594,531...1,610,412 		JBrowse link
G S1pr2 sphingosine-1-phosphate receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004955495:1,528,963...1,530,527
Ensembl chrNW_004955495:1,529,428...1,530,486 		JBrowse link
G S1pr5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004955495:1,717,549...1,722,257 JBrowse link
G Slc44a2 solute carrier family 44 member 2 (CTL2 blood group) ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004955495:1,780,766...1,804,944
Ensembl chrNW_004955495:1,791,508...1,807,216 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY OMIM
ClinVar		 PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 More... NCBI chrNW_004955495:1,618,099...1,637,996
Ensembl chrNW_004955495:1,617,999...1,636,068 		JBrowse link
G Zglp1 zinc finger GATA like protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004955495:1,585,473...1,590,321 JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532 NCBI chrNW_004955412:20,149,104...20,161,378
Ensembl chrNW_004955412:20,148,953...20,161,172 		JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3kbp1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 61 | ClinVar Annotator: match by term: SH3KBP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29636373 NCBI chrNW_004955509:6,157...344,930
Ensembl chrNW_004955509:4,960...345,012 		JBrowse link
immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 OMIM
ClinVar		 PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 More... NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093 		JBrowse link
immunodeficiency with hyper IgM type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acacb acetyl-CoA carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chrNW_004955455:10,282,308...10,427,439
Ensembl chrNW_004955455:10,308,192...10,426,076 		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 chrNW_004955455:10,266,989...10,282,196
Ensembl chrNW_004955455:10,266,989...10,282,196 		JBrowse link <