Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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.

show annotations for term's descendants           Sort by:
blood protein disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO DNA:missense mutation:cds:p.D293G,K198I(human) RGD PMID:20603593 RGD:11035265 NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624 		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_004624740:16,128,145...16,136,696
Ensembl chrNW_004624740:16,128,059...16,137,337 		JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
associated with Anemia, Sickle Cell;DNA:repeats:intron:		 RGD PMID:14687036 PMID:25263931 RGD:11533931 RGD:11533934 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)		 RGD PMID:22925497 PMID:25130874 RGD:11075233 RGD:11075235 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: 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_004624790:9,809,550...9,829,199
Ensembl chrNW_004624790:9,809,492...9,829,883 		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_004624790:9,744,127...9,755,685
Ensembl chrNW_004624790:9,744,078...9,755,375 		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_004624826:5,504,676...5,574,037
Ensembl chrNW_004624826:5,505,569...5,573,783 		JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624784:13,714,667...13,726,881
Ensembl chrNW_004624784:13,712,920...13,726,950 		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_004624784:13,738,424...13,748,311
Ensembl chrNW_004624784:13,738,686...13,748,415 		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_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		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_004624790:8,369,972...8,437,595
Ensembl chrNW_004624790:8,369,964...8,438,683 		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_004624790:8,686,027...8,692,119
Ensembl chrNW_004624790:8,686,027...8,691,898 		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_004624790:9,091,461...9,095,889
Ensembl chrNW_004624790:9,091,461...9,095,722 		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_004624790:8,761,077...8,789,728
Ensembl chrNW_004624790:8,761,075...8,789,711 		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_004624790:8,228,234...8,266,585
Ensembl chrNW_004624790:8,228,259...8,267,179 		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_004624790:10,150,070...10,156,194
Ensembl chrNW_004624790:10,149,601...10,153,411 		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_004624790:10,164,395...10,188,812
Ensembl chrNW_004624790:10,164,395...10,188,801 		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_004624790:10,620,586...10,621,394 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_004624790:10,039,344...10,065,167
Ensembl chrNW_004624790:10,038,999...10,100,649 		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_004624790:10,674,002...10,726,292
Ensembl chrNW_004624790:10,678,911...10,726,265 		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_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879 		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_004624790:10,250,403...10,320,279
Ensembl chrNW_004624790:10,250,472...10,319,110 		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_004624790:9,721,178...9,727,005
Ensembl chrNW_004624790:9,721,364...9,726,830 		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_004624790:9,399,267...9,405,503
Ensembl chrNW_004624790:9,399,965...9,407,376 		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_004624790:9,182,374...9,194,235
Ensembl chrNW_004624790:9,182,847...9,194,384 		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_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		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_004624790:10,629,771...10,665,187
Ensembl chrNW_004624790:10,630,158...10,664,982 		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_004624744:2,013,936...2,061,726
Ensembl chrNW_004624744:2,013,922...2,061,708 		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_004624790:8,503,605...8,538,243
Ensembl chrNW_004624790:8,503,611...8,538,238 		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_004624790:8,692,232...8,694,648
Ensembl chrNW_004624790:8,692,235...8,694,648 		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_004624823:5,859,157...5,944,573
Ensembl chrNW_004624823:5,864,003...5,946,583 		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_004624790:8,110,491...8,116,657 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_004624790:10,228,671...10,244,275 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_004624790:9,545,719...9,572,447
Ensembl chrNW_004624790:9,545,145...9,570,872 		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_004624790:8,647,292...8,660,138
Ensembl chrNW_004624790:8,647,317...8,660,080 		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_004624790:9,075,733...9,084,961
Ensembl chrNW_004624790:9,075,773...9,084,959 		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_004624790:9,829,686...9,936,336
Ensembl chrNW_004624790:9,829,686...9,871,564 		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_004624790:8,673,212...8,686,094
Ensembl chrNW_004624790:8,673,089...8,685,942 		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_004624790:10,104,966...10,116,118
Ensembl chrNW_004624790:10,102,516...10,115,267 		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_004624767:10,694,867...10,698,041
Ensembl chrNW_004624767:10,694,867...10,698,001 		JBrowse link
G Rag2 recombination activating 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:15025726 PMID:24174341 PMID:25741868 PMID:26457731 PMID:28492532 More... NCBI chrNW_004624767:10,678,547...10,680,130
Ensembl chrNW_004624767:10,678,359...10,680,132 		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_004624790:9,173,059...9,185,271
Ensembl chrNW_004624790:9,173,653...9,184,378 		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_004624790:9,654,266...9,720,522
Ensembl chrNW_004624790:9,658,850...9,721,084 		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_004624790:9,146,371...9,166,729
Ensembl chrNW_004624790:9,145,745...9,169,526 		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_004624790:9,951,067...9,983,251
Ensembl chrNW_004624790:9,951,233...9,980,234 		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_004624790:8,539,103...8,576,877
Ensembl chrNW_004624790:8,537,185...8,576,861 		JBrowse link
G Slc13a3 solute carrier family 13 member 3 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,028,054...8,104,123
Ensembl chrNW_004624790:8,028,103...8,105,871 		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_004624790:7,967,398...7,982,312
Ensembl chrNW_004624790:7,966,694...7,982,367 		JBrowse link
G Slc35c2 solute carrier family 35 member C2 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,268,219...8,281,085
Ensembl chrNW_004624790:8,268,220...8,281,912 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:9,235,830...9,238,562
Ensembl chrNW_004624790:9,235,650...9,239,231 		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_004624790:8,722,730...8,745,770
Ensembl chrNW_004624790:8,737,721...8,745,860 		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_004624790:8,695,832...8,697,063
Ensembl chrNW_004624790:8,695,898...8,697,323 		JBrowse link
G Spint4 serine peptidase inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,812,003...8,818,205 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_004624790:9,415,172...9,521,103
Ensembl chrNW_004624790:9,415,177...9,521,051 		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_004624790:9,121,986...9,127,485
Ensembl chrNW_004624790:9,120,280...9,127,567 		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_004624790:9,523,612...9,542,475
Ensembl chrNW_004624790:9,523,111...9,543,154 		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_004624790:10,339,928...10,467,855
Ensembl chrNW_004624790:10,339,858...10,467,837 		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_004624790:7,992,996...7,996,191
Ensembl chrNW_004624790:7,992,762...7,998,639 		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_004624790:9,084,921...9,115,285
Ensembl chrNW_004624790:9,110,692...9,116,287 		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_004624790:9,986,075...9,999,838
Ensembl chrNW_004624790:9,989,546...10,004,122 		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_004624790:8,756,758...8,760,078
Ensembl chrNW_004624790:8,751,662...8,760,057 		JBrowse link
G Wfdc10a WAP four-disulfide core domain 10A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,832,808...8,836,126 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_004624790:8,928,002...8,934,503 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_004624790:8,789,875...8,800,843 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_004624790:9,386,787...9,393,060
Ensembl chrNW_004624790:9,387,902...9,393,179 		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_004624790:8,859,310...8,868,261
Ensembl chrNW_004624790:8,860,940...8,868,261 		JBrowse link
G Wfdc9 WAP four-disulfide core domain 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chrNW_004624790:8,844,701...8,846,216
Ensembl chrNW_004624790:8,844,701...8,846,594 		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_004624790:9,574,003...9,593,821
Ensembl chrNW_004624790:9,574,027...9,593,825 		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_004624790:8,624,316...8,646,712
Ensembl chrNW_004624790:8,625,150...8,647,441 		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_004624790:8,698,022...8,702,316
Ensembl chrNW_004624790:8,698,522...8,702,186 		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_004624790:8,703,660...8,720,300
Ensembl chrNW_004624790:8,703,675...8,720,270 		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_004624737:7,565,169...7,681,102 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_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576 		JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897 		JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14660746 RGD:1599837 NCBI chrNW_004624760:6,122,626...6,148,033
Ensembl chrNW_004624760:6,122,626...6,147,076 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		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_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897 		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_004624767:1,376,649...1,404,382
Ensembl chrNW_004624767:1,394,704...1,404,406 		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_004624747:10,411,933...10,413,969
Ensembl chrNW_004624747:10,412,012...10,413,969 		JBrowse link
G CUNH22orf15 chromosome unknown C22orf15 homolog ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,413,941...10,416,539 JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,357,560...10,359,779
Ensembl chrNW_004624747:10,357,627...10,359,779 		JBrowse link
G Mif macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,307,826...10,308,649
Ensembl chrNW_004624747:10,303,919...10,308,821 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,398,167...10,408,397
Ensembl chrNW_004624747:10,398,130...10,408,376 		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_004624747:10,314,718...10,357,501
Ensembl chrNW_004624747:10,315,205...10,344,045 		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_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719 		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_004624747:10,422,747...10,425,633
Ensembl chrNW_004624747:10,424,262...10,425,438 		JBrowse link
G Znf70 zinc finger protein 70 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624747:10,426,982...10,431,945
Ensembl chrNW_004624747:10,426,991...10,432,859 		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_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624907:811,069...818,218
Ensembl chrNW_004624907:810,984...818,614 		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_004624737:6,921,619...6,970,113
Ensembl chrNW_004624737:6,921,222...6,970,488 		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_004624737:7,565,169...7,681,102 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_004624737:7,298,646...7,417,751
Ensembl chrNW_004624737:7,300,871...7,418,559 		JBrowse link
G Ccnj cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624737:7,431,033...7,448,609
Ensembl chrNW_004624737:7,431,051...7,449,346 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624737:7,011,792...7,193,903
Ensembl chrNW_004624737:7,084,818...7,191,918 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004624737:6,980,716...7,011,681
Ensembl chrNW_004624737:6,984,234...7,012,142 		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_004624737:7,519,340...7,544,529
Ensembl chrNW_004624737:7,537,816...7,542,267 		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_004624760:6,122,626...6,148,033
Ensembl chrNW_004624760:6,122,626...6,147,076 		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_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955 		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_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610 		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_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		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_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		JBrowse link
agammaglobulinemia 8B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307 NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		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_004624754:23,602,940...23,606,903
Ensembl chrNW_004624754:23,603,141...23,640,406 		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_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624 		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_004624748:2,112,574...2,183,994
Ensembl chrNW_004624748:2,113,094...2,205,856 		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_004624771:8,137,031...8,172,876
Ensembl chrNW_004624771:8,136,965...8,172,951 		JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:6,982,248...6,993,661
Ensembl chrNW_004624771:6,982,255...6,993,867 		JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:8,034,225...8,051,451
Ensembl chrNW_004624771:8,036,701...8,051,998 		JBrowse link
G Cop1 COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:5,922,086...6,132,537
Ensembl chrNW_004624771:5,922,067...6,133,597 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:8,003,208...8,033,981
Ensembl chrNW_004624771:8,003,295...8,034,043 		JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:7,460,199...7,467,519
Ensembl chrNW_004624771:7,463,809...7,467,044 		JBrowse link
G Kiaa0040 KIAA0040 ortholog ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:6,826,430...6,864,238
Ensembl chrNW_004624771:6,826,573...6,864,188 		JBrowse link
G Klhl20 kelch like family member 20 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:8,068,522...8,117,329 JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:6,975,680...6,978,290
Ensembl chrNW_004624771:6,975,673...6,978,290 		JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:8,282,622...8,293,799
Ensembl chrNW_004624771:8,282,062...8,294,340 		JBrowse link
G Rabgap1l RAB GTPase activating protein 1 like ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:6,999,341...7,738,571
Ensembl chrNW_004624771:7,004,468...7,738,646 		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_004624771:7,837,547...7,948,217 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_004624771:7,955,778...7,966,637
Ensembl chrNW_004624771:7,955,739...7,966,637 		JBrowse link
G Slc9c2 solute carrier family 9 member C2 (putative) ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:8,175,164...8,268,303
Ensembl chrNW_004624771:8,187,118...8,268,333 		JBrowse link
G Tex50 testis expressed 50 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:8,150,058...8,154,556
Ensembl chrNW_004624771:8,149,931...8,154,483 		JBrowse link
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:8,711,093...8,722,518
Ensembl chrNW_004624771:8,711,017...8,722,539 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:8,580,489...8,599,735 JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:6,872,134...6,933,419
Ensembl chrNW_004624771:6,872,964...6,932,920 		JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:6,291,202...6,725,737
Ensembl chrNW_004624771:6,519,091...6,717,947 		JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004624771:7,958,343...7,995,351
Ensembl chrNW_004624771:7,980,922...7,995,017 		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_004624736:37,729,624...37,757,780
Ensembl chrNW_004624736:37,730,072...37,749,174 		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_004624832:4,462,675...4,467,676
Ensembl chrNW_004624832:4,462,766...4,467,616 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chrNW_004624760:3,932,213...4,007,290
Ensembl chrNW_004624760:3,955,494...4,007,610 		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_004624822:4,035,819...4,062,907
Ensembl chrNW_004624822:4,033,130...4,059,555 		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_004624822:4,081,012...4,140,702
Ensembl chrNW_004624822:4,091,523...4,130,083 		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_004624732:14,314,257...14,339,942
Ensembl chrNW_004624732:14,313,808...14,339,847 		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_004624732:13,543,975...13,592,942
Ensembl chrNW_004624732:13,544,507...13,592,795 		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_004624732:13,730,648...13,776,886
Ensembl chrNW_004624732:13,729,947...13,776,870 		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_004624732:14,115,267...14,129,714
Ensembl chrNW_004624732:14,115,325...14,128,169 		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_004624732:17,210,315...17,249,930
Ensembl chrNW_004624732:17,209,984...17,250,358 		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_004624732:13,961,929...14,002,003
Ensembl chrNW_004624732:13,966,393...14,001,713 		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_004624732:14,102,543...14,144,479
Ensembl chrNW_004624732:14,102,543...14,144,722 		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_004624732:13,790,088...13,877,641
Ensembl chrNW_004624732:13,790,080...13,877,598 		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_004624732:14,001,973...14,101,924
Ensembl chrNW_004624732:14,033,495...14,101,713 		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_004624732:14,294,694...14,308,843
Ensembl chrNW_004624732:14,295,113...14,308,826 		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_004624732:13,915,361...13,922,182
Ensembl chrNW_004624732:13,915,402...13,923,593 		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_004624732:14,180,104...14,182,431 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_004624732:17,274,731...17,379,634
Ensembl chrNW_004624732:17,279,254...17,415,628 		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_004624732:14,183,734...14,280,825
Ensembl chrNW_004624732:14,183,132...14,280,795 		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_004624789:6,621,803...6,704,033 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_004624792:8,029,383...8,087,824
Ensembl chrNW_004624792:8,029,364...8,084,424 		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_004624732:13,915,361...13,922,182
Ensembl chrNW_004624732:13,915,402...13,923,593 		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_004624789:6,710,858...6,783,097
Ensembl chrNW_004624789:6,710,681...6,783,667 		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_004624789:6,787,255...6,853,438
Ensembl chrNW_004624789:6,787,234...6,846,201 		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_004624789:6,621,803...6,704,033 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_004624789:6,740,514...6,757,694
Ensembl chrNW_004624789:6,744,858...6,756,127 		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_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		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_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		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_004624786:9,838,102...9,843,506
Ensembl chrNW_004624786:9,838,227...9,843,332 		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_004624786:9,955,883...9,972,391
Ensembl chrNW_004624786:9,958,351...9,972,326 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,542,966...9,555,235
Ensembl chrNW_004624786:9,542,970...9,555,214 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,647,450...10,659,301
Ensembl chrNW_004624786:10,647,175...10,659,337 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,666,255...10,689,204
Ensembl chrNW_004624786:10,666,423...10,688,376 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,728,949...9,753,438
Ensembl chrNW_004624786:9,728,336...9,753,434 		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_004624786:10,254,979...10,261,508
Ensembl chrNW_004624786:10,234,492...10,262,367 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,769,797...10,775,142
Ensembl chrNW_004624786:10,765,610...10,775,112 		JBrowse link
G Bacc1 BPTF associated chromatin complex component 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,559,130...9,561,847
Ensembl chrNW_004624786:9,557,766...9,562,800 		JBrowse link
G Bcl6b BCL6B transcription repressor ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,566,742...9,573,513
Ensembl chrNW_004624786:9,566,867...9,573,513 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,755,776...10,758,103 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_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576 		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_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cd68 CD68 molecule ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,195,337...10,197,963 JBrowse link
G Cd81 CD81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624767:15,192,446...15,210,923
Ensembl chrNW_004624767:15,192,452...15,210,922 		JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,056,458...10,065,768
Ensembl chrNW_004624786:10,056,478...10,065,735 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,873,555...9,875,743
Ensembl chrNW_004624786:9,873,555...9,875,817 		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_004624786:10,514,593...10,532,661
Ensembl chrNW_004624786:10,514,609...10,532,563 		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_004624807:4,149,472...4,179,269
Ensembl chrNW_004624807:4,152,230...4,179,211 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,795,848...10,819,029
Ensembl chrNW_004624786:10,795,193...10,819,613 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,857,370...9,867,299
Ensembl chrNW_004624786:9,860,758...9,867,293 		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_004624805:555,444...593,548
Ensembl chrNW_004624805:555,545...592,250 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,811,201...9,835,660
Ensembl chrNW_004624786:9,811,780...9,837,100 		JBrowse link
G Dnah2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,311,183...10,413,236
Ensembl chrNW_004624786:10,311,214...10,413,037 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,843,580...9,851,538
Ensembl chrNW_004624786:9,844,157...9,851,301 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,297,795...10,304,363
Ensembl chrNW_004624786:10,297,807...10,304,473 		JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,188,326...10,194,466
Ensembl chrNW_004624786:10,188,406...10,194,464 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,933,325...9,938,178 JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,866,689...9,873,242
Ensembl chrNW_004624786:9,867,704...9,874,886 		JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:7,263,219...7,269,847
Ensembl chrNW_004624786:7,262,539...7,269,946 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chrNW_004624826:23,930...34,735 JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,049,954...10,056,376
Ensembl chrNW_004624786:10,050,002...10,056,390 		JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,205,830...10,226,973
Ensembl chrNW_004624786:10,205,835...10,226,513 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,857,370...9,859,675
Ensembl chrNW_004624786:9,857,370...9,860,063 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,938,384...9,941,210
Ensembl chrNW_004624786:9,938,384...9,941,235 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,574,252...10,589,303
Ensembl chrNW_004624786:10,574,968...10,588,540 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,692,329...10,699,346
Ensembl chrNW_004624786:10,692,329...10,695,132 		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_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861 		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_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841 		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_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304 		JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chrNW_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650 		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_004624786:10,504,135...10,512,383
Ensembl chrNW_004624786:10,504,147...10,511,695 		JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,972,773...9,975,819
Ensembl chrNW_004624786:9,973,841...9,974,539 		JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,413,670...10,435,118
Ensembl chrNW_004624786:10,425,816...10,433,806 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chrNW_004624830:5,254,545...5,329,627
Ensembl chrNW_004624830:5,254,495...5,330,611 		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_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297 		JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,199,320...10,202,997
Ensembl chrNW_004624786:10,199,141...10,202,984 		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_004624786:10,436,970...10,437,882
Ensembl chrNW_004624786:10,436,970...10,437,890 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,941,300...9,953,026
Ensembl chrNW_004624786:9,941,296...9,953,011 		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_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723 		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_004624831:1,804,050...1,810,309
Ensembl chrNW_004624831:1,803,917...1,810,187 		JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,019,307...10,034,624
Ensembl chrNW_004624786:10,022,717...10,034,624 		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_004624870:33,293...122,536 JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,706,495...10,722,110
Ensembl chrNW_004624786:10,707,075...10,719,859 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,852,151...9,856,541
Ensembl chrNW_004624786:9,852,366...9,856,524 		JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,003,626...10,008,457
Ensembl chrNW_004624786:10,003,626...10,008,879 		JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,098,133...10,122,783
Ensembl chrNW_004624786:10,097,294...10,122,893 		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_004624831:1,810,372...1,823,708
Ensembl chrNW_004624831:1,809,518...1,823,318 		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_004624767:10,678,547...10,680,130
Ensembl chrNW_004624767:10,678,359...10,680,132 		JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,556,891...9,558,946
Ensembl chrNW_004624786:9,556,874...9,558,946 		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_004624786:10,232,078...10,233,602
Ensembl chrNW_004624786:10,227,937...10,233,723 		JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,179,604...10,187,416
Ensembl chrNW_004624786:10,179,557...10,187,416 		JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,234,484...10,239,034 JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:7,321,622...7,357,270
Ensembl chrNW_004624786:7,322,188...7,357,220 		JBrowse link
G Slc16a11 solute carrier family 16 member 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,579,714...9,582,464
Ensembl chrNW_004624786:9,578,614...9,583,715 		JBrowse link
G Slc16a13 solute carrier family 16 member 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,575,407...9,579,052
Ensembl chrNW_004624786:9,574,583...9,579,048 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,903,176...9,908,953
Ensembl chrNW_004624786:9,902,509...9,909,684 		JBrowse link
G Slc35g6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,085,388...10,096,246 JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,202,988...10,204,808
Ensembl chrNW_004624786:10,202,988...10,204,358 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,034,794...10,038,171
Ensembl chrNW_004624786:10,034,685...10,036,388 		JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:7,218,533...7,248,593
Ensembl chrNW_004624786:7,218,590...7,249,538 		JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,047,087...10,049,324
Ensembl chrNW_004624786:10,046,666...10,052,108 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,742,842...10,745,381
Ensembl chrNW_004624786:10,741,929...10,745,359 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,017,349...10,018,658
Ensembl chrNW_004624786:10,017,352...10,018,582 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,435,352...10,436,385
Ensembl chrNW_004624786:10,435,363...10,436,374 		JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,975,903...9,978,343
Ensembl chrNW_004624786:9,976,052...9,977,825 		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_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593 		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_004624752:6,797,453...6,799,437
Ensembl chrNW_004624752:6,797,983...6,799,097 		JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chrNW_004624786:10,165,694...10,176,042
Ensembl chrNW_004624786:10,166,168...10,175,433 		JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,175,534...10,179,233
Ensembl chrNW_004624786:10,175,859...10,179,233 		JBrowse link
G Tnk1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,995,167...10,003,298
Ensembl chrNW_004624786:9,997,089...10,003,553 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,512,569...10,514,504
Ensembl chrNW_004624786:10,512,587...10,514,213 		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_004624738:28,355,161...28,472,733
Ensembl chrNW_004624738:28,355,121...28,472,733 		JBrowse link
G Vamp2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,723,791...10,727,654
Ensembl chrNW_004624786:10,724,964...10,727,649 		JBrowse link
G Wrap53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:10,283,721...10,296,568
Ensembl chrNW_004624786:10,283,984...10,296,729 		JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:7,270,601...7,286,431
Ensembl chrNW_004624786:7,269,986...7,286,640 		JBrowse link
G Ybx2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004624786:9,909,464...9,915,335
Ensembl chrNW_004624786:9,909,761...9,915,280 		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_004624786:10,067,503...10,085,500
Ensembl chrNW_004624786:10,066,801...10,085,482 		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_004624765:12,971,867...13,091,446
Ensembl chrNW_004624765:12,998,315...13,091,370 		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_004624899:74,080...170,565 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_004624765:13,849,689...13,950,839
Ensembl chrNW_004624765:13,857,062...13,947,683 		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_004624782:14,519,283...14,654,514 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_004624765:13,370,578...13,504,485
Ensembl chrNW_004624765:13,431,825...13,466,969 		JBrowse link
G Casp10 caspase 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004624889:31,132...63,774 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_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087 		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_004624765:12,650,092...12,667,168 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_004624765:14,550,267...14,641,749
Ensembl chrNW_004624765:14,555,207...14,641,545 		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_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989 		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_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		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_004624765:13,661,928...13,782,962
Ensembl chrNW_004624765:13,701,345...13,782,952 		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_004624899:361,645...416,374
Ensembl chrNW_004624899:389,719...416,603 		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_004624765:14,399,143...14,402,970 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_004624765:13,547,437...13,687,641
Ensembl chrNW_004624765:13,588,073...13,687,250 		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_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861 		JBrowse link
G LOC101700295 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_004624765:13,108,937...13,159,580
Ensembl chrNW_004624765:13,105,816...13,159,574 		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_004624899:175,920...205,398 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_004624765:13,176,362...13,380,414
Ensembl chrNW_004624765:13,176,944...13,380,292 		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_004624889:126,294...141,572
Ensembl chrNW_004624889:131,732...141,915 		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_004624831:1,804,050...1,810,309
Ensembl chrNW_004624831:1,803,917...1,810,187 		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_004624765:14,139,815...14,172,413 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_004624765:12,867,547...12,994,605
Ensembl chrNW_004624765:12,922,083...12,990,363 		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_004624899:255,042...275,258
Ensembl chrNW_004624899:255,042...275,235 		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_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864 		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_004624899:209,810...239,404
Ensembl chrNW_004624899:206,878...238,737 		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_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593 		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_004624899:275,291...335,555
Ensembl chrNW_004624899:300,096...332,392 		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_004624765:13,504,347...13,532,418
Ensembl chrNW_004624765:13,504,533...13,531,200 		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_004624831:1,804,050...1,810,309
Ensembl chrNW_004624831:1,803,917...1,810,187 		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_004624831:1,810,372...1,823,708
Ensembl chrNW_004624831:1,809,518...1,823,318 		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_004624817:5,291,111...5,522,732
Ensembl chrNW_004624817:5,291,717...5,522,864 		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_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304 		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_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723 		JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chrNW_004624794:10,172,789...10,180,693
Ensembl chrNW_004624794:10,168,792...10,179,510 		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_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841 		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_004624775:15,152,840...15,300,160
Ensembl chrNW_004624775:15,152,950...15,301,078 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:14,992,189...15,066,787
Ensembl chrNW_004624775:14,992,335...15,065,970 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,141,131...15,149,187 JBrowse link
G Gng4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:14,916,047...14,962,661
Ensembl chrNW_004624775:14,916,063...14,962,667 		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_004624775:15,479,808...15,484,855
Ensembl chrNW_004624775:15,482,630...15,484,824 		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_004624775:16,494,054...16,538,089
Ensembl chrNW_004624775:16,493,949...16,538,025 		JBrowse link
G LOC101702099 cytochrome c oxidase assembly factor 6 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,942,940...15,945,964 JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:14,670,498...14,900,501
Ensembl chrNW_004624775:14,705,693...14,898,660 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:14,486,357...14,563,341
Ensembl chrNW_004624775:14,486,145...14,563,447 		JBrowse link
G Rbm34 RNA binding motif protein 34 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,293,143...15,325,344
Ensembl chrNW_004624775:15,304,205...15,325,344 		JBrowse link
G Slc35f3 solute carrier family 35 member F3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,998,318...16,330,835
Ensembl chrNW_004624775:15,996,602...16,084,601 		JBrowse link
G Tarbp1 TAR (HIV-1) RNA binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,874,543...15,939,275
Ensembl chrNW_004624775:15,874,551...15,939,272 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,067,044...15,132,690
Ensembl chrNW_004624775:15,067,044...15,133,008 		JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chrNW_004624775:15,331,214...15,355,206
Ensembl chrNW_004624775:15,331,047...15,355,206 		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_004624961:427,836...460,887 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_004624961:466,234...477,880
Ensembl chrNW_004624961:467,656...477,884 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Decreased circulating antibody concentration ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624751:624,569...647,198 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_004624849:5,911,711...5,941,706
Ensembl chrNW_004624849:5,912,273...5,938,007 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,257,460...3,280,870
Ensembl chrNW_004624849:3,257,459...3,280,245 		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_004624849:3,409,108...3,429,780
Ensembl chrNW_004624849:3,409,121...3,429,780 		JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,635,996...5,644,139
Ensembl chrNW_004624849:5,633,076...5,644,221 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:4,125,188...4,150,933
Ensembl chrNW_004624849:4,124,586...4,150,933 		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_004624807:4,149,472...4,179,269
Ensembl chrNW_004624807:4,152,230...4,179,211 		JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,429,932...3,466,172
Ensembl chrNW_004624849:3,429,932...3,466,481 		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_004624849:3,352,124...3,370,288
Ensembl chrNW_004624849:3,351,963...3,370,229 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,520,279...5,632,152
Ensembl chrNW_004624849:5,577,679...5,633,008 		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_004624849:5,396,223...5,428,272
Ensembl chrNW_004624849:5,398,579...5,428,309 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:4,157,683...4,179,724 JBrowse link
G Flii FLII actin remodeling protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,213,988...3,227,734
Ensembl chrNW_004624849:3,214,042...3,227,476 		JBrowse link
G Gid4 GID complex subunit 4 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,385,312...3,408,842
Ensembl chrNW_004624849:3,386,101...3,408,924 		JBrowse link
G Grap GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,441,806...5,468,300
Ensembl chrNW_004624849:5,441,749...5,468,276 		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_004624849:3,227,518...3,245,137
Ensembl chrNW_004624849:3,227,758...3,245,118 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,655,631...5,661,779
Ensembl chrNW_004624849:5,656,515...5,664,721 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,920,046...3,934,748
Ensembl chrNW_004624849:3,920,268...3,934,777 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,661,916...5,665,290
Ensembl chrNW_004624849:5,661,920...5,664,970 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,207,698...3,213,121
Ensembl chrNW_004624849:3,207,606...3,212,671 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:4,231,802...4,368,355
Ensembl chrNW_004624849:4,237,118...4,368,355 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,283,180...3,345,456
Ensembl chrNW_004624849:3,284,085...3,344,759 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:4,031,421...4,098,326
Ensembl chrNW_004624849:4,052,050...4,098,149 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,818,115...3,907,250
Ensembl chrNW_004624849:3,817,915...3,908,888 		JBrowse link
G Pld6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:4,202,398...4,245,217
Ensembl chrNW_004624849:4,224,986...4,227,755 		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_004624849:5,298,389...5,334,161
Ensembl chrNW_004624849:5,298,410...5,334,161 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,624,436...3,749,276
Ensembl chrNW_004624849:3,625,882...3,640,671 		JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,916,898...3,918,904
Ensembl chrNW_004624849:3,916,907...3,920,212 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,698,937...5,706,316
Ensembl chrNW_004624849:5,699,839...5,706,826 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,108,875...3,146,669
Ensembl chrNW_004624849:3,114,876...3,146,248 		JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:5,775,925...5,831,941
Ensembl chrNW_004624849:5,776,180...5,830,871 		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_004624849:5,364,527...5,441,805
Ensembl chrNW_004624849:5,368,343...5,441,797 		JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,147,251...3,159,358
Ensembl chrNW_004624849:3,149,121...3,159,273 		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_004624849:3,602,103...3,623,922
Ensembl chrNW_004624849:3,602,261...3,623,465 		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_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593 		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_004624752:6,797,453...6,799,437
Ensembl chrNW_004624752:6,797,983...6,799,097 		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_004624849:3,466,572...3,594,397
Ensembl chrNW_004624849:3,466,520...3,594,738 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624849:3,159,432...3,196,235
Ensembl chrNW_004624849:3,159,810...3,194,860 		JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004624877:3,536,540...3,631,960
Ensembl chrNW_004624877:3,516,159...3,631,561 		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_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576 		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_004624752:6,127,296...6,150,474
Ensembl chrNW_004624752:6,144,720...6,145,781 		JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,074,148...7,113,773
Ensembl chrNW_004624752:7,074,153...7,113,773 		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_004624752:6,872,192...6,885,435
Ensembl chrNW_004624752:6,871,911...6,885,396 		JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,781,504...6,790,520
Ensembl chrNW_004624752:6,781,529...6,790,518 		JBrowse link
G Chadl chondroadherin like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:7,284,344...7,293,815
Ensembl chrNW_004624752:7,283,639...7,289,531 		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_004624752:7,047,262...7,058,818
Ensembl chrNW_004624752:7,047,271...7,058,830 		JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,010,941...7,031,125
Ensembl chrNW_004624752:7,010,963...7,031,125 		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_004624752:7,291,888...7,309,379
Ensembl chrNW_004624752:7,292,852...7,309,856 		JBrowse link
G LOC101718541 NADH-cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:6,182,156...6,198,395
Ensembl chrNW_004624752:6,182,129...6,198,400 		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_004624752:6,885,606...6,958,109 JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,682,272...6,689,491
Ensembl chrNW_004624752:6,675,255...6,692,231 		JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:6,658,807...6,663,830
Ensembl chrNW_004624752:6,658,824...6,663,830 		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_004624752:6,298,251...6,356,562
Ensembl chrNW_004624752:6,324,181...6,357,066 		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_004624752:6,665,433...6,675,776
Ensembl chrNW_004624752:6,669,159...6,673,747 		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_004624752:7,114,239...7,123,706
Ensembl chrNW_004624752:7,114,274...7,123,706 		JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:7,039,781...7,047,069
Ensembl chrNW_004624752:7,039,789...7,047,069 		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_004624752:6,200,864...6,228,472
Ensembl chrNW_004624752:6,200,888...6,228,471 		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_004624752:7,066,057...7,074,251
Ensembl chrNW_004624752:7,066,073...7,074,251 		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_004624752:7,246,161...7,277,702
Ensembl chrNW_004624752:7,246,193...7,277,701 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:7,547,702...7,560,605
Ensembl chrNW_004624752:7,546,959...7,560,668 		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_004624752:6,229,962...6,236,699
Ensembl chrNW_004624752:6,230,009...6,235,373 		JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004624752:6,737,704...6,757,920 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_004624752:6,808,295...6,813,039
Ensembl chrNW_004624752:6,808,295...6,813,216 		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_004624752:6,665,433...6,668,956
Ensembl chrNW_004624752:6,665,433...6,669,045 		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_004624752:6,972,557...6,985,033
Ensembl chrNW_004624752:6,972,618...6,985,033 		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_004624752:6,815,075...6,871,674
Ensembl chrNW_004624752:6,816,468...6,871,567 		JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:6,446,414...6,537,238 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_004624752:7,159,791...7,186,043
Ensembl chrNW_004624752:7,159,362...7,186,022 		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_004624752:6,797,453...6,799,437
Ensembl chrNW_004624752:6,797,983...6,799,097 		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_004624752:7,129,464...7,190,718
Ensembl chrNW_004624752:7,129,550...7,140,668 		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_004624752:6,689,501...6,736,053
Ensembl chrNW_004624752:6,711,843...6,736,018 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004624752:7,573,399...7,634,875
Ensembl chrNW_004624752:7,574,920...7,634,838 		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_004624752:6,987,456...7,010,834
Ensembl chrNW_004624752:6,979,271...7,010,787 		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_004624752:7,191,287...7,233,982
Ensembl chrNW_004624752:7,193,846...7,216,469 		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_004624767:15,192,446...15,210,923
Ensembl chrNW_004624767:15,192,452...15,210,922 		JBrowse link
common variable immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4bpb complement component 4 binding protein beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,407,008...4,416,313
Ensembl chrNW_004624807:4,406,766...4,415,248 		JBrowse link
G Cd34 CD34 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:3,936,043...3,958,274
Ensembl chrNW_004624807:3,936,028...3,957,249 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,040,639...4,074,631 JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,252,676...4,274,828 JBrowse link
G Cr2 complement C3d receptor 2 susceptibility ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24029428 More... NCBI chrNW_004624807:4,149,472...4,179,269
Ensembl chrNW_004624807:4,152,230...4,179,211 		JBrowse link
G CUNH1orf116 chromosome unknown C1orf116 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,462,329...4,474,382
Ensembl chrNW_004624807:4,462,447...4,474,792 		JBrowse link
G Fcamr Fc alpha and mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,508,910...4,534,263 JBrowse link
G Fcmr Fc mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,567,240...4,581,406 JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,636,357...4,641,022
Ensembl chrNW_004624807:4,636,374...4,641,022 		JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,618,378...4,620,844
Ensembl chrNW_004624807:4,617,738...4,620,843 		JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,581,805...4,586,808
Ensembl chrNW_004624807:4,581,731...4,585,010 		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_004624807:4,420,577...4,442,842
Ensembl chrNW_004624807:4,420,047...4,443,370 		JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,545,508...4,562,976
Ensembl chrNW_004624807:4,545,481...4,563,357 		JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:3,643,283...3,829,817
Ensembl chrNW_004624807:3,643,255...3,834,128 		JBrowse link
G Yod1 YOD1 deubiquitinase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004624807:4,443,653...4,448,759
Ensembl chrNW_004624807:4,443,650...4,446,373 		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_004624858:1,797,123...2,471,017
Ensembl chrNW_004624858:1,797,123...2,471,867 		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_004624858:2,074,510...2,077,282
Ensembl chrNW_004624858:2,075,456...2,076,535 		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_004624732:13,915,361...13,922,182
Ensembl chrNW_004624732:13,915,402...13,923,593 		JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712 		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_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910 		JBrowse link
G Tcn2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chrNW_004624747:6,970,707...6,987,946
Ensembl chrNW_004624747:6,971,289...6,987,440 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase ISO associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human) RGD PMID:26219420 RGD:30296664 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		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_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Ung uracil DNA glycosylase ISO Hyper-IgM syndrome 5, OMIM:608106 RGD PMID:12958596 RGD:1599705 NCBI chrNW_004624747:12,261,546...12,275,229
Ensembl chrNW_004624747:12,261,623...12,274,859 		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_004624946:989,376...1,001,787
Ensembl chrNW_004624946:986,107...1,001,955 		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_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379 		JBrowse link
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc fragment of IgG receptor IIIa treatment ISO DNA:polymorphism: :p.V176F (human) RGD PMID:21538321 RGD:11344956 NCBI chrNW_004624826:51,387...59,117 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_004624795:1,624,535...1,635,409
Ensembl chrNW_004624795:1,624,373...1,634,292 		JBrowse link
G Il4r interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chrNW_004624782:11,981,781...12,008,362 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_004624759:3,258,324...3,315,265
Ensembl chrNW_004624759:3,276,741...3,312,601 		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_004624849:1,895,378...1,952,755
Ensembl chrNW_004624849:1,895,914...1,952,665 		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_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		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_004624801:9,160,852...9,217,033
Ensembl chrNW_004624801:9,160,805...9,217,756 		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_004624736:4,959,482...5,195,182
Ensembl chrNW_004624736:4,959,634...5,193,928 		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_004624736:5,260,761...5,444,234
Ensembl chrNW_004624736:5,379,728...5,444,234 		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_004624736:4,878,241...4,934,000 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_004624842:5,518,327...5,565,661
Ensembl chrNW_004624842:5,519,035...5,565,613 		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_004624759:3,258,324...3,315,265
Ensembl chrNW_004624759:3,276,741...3,312,601 		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_004624801:9,160,852...9,217,033
Ensembl chrNW_004624801:9,160,805...9,217,756 		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_004624736:5,525,417...5,641,612
Ensembl chrNW_004624736:5,525,408...5,645,636 		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_004624736:4,959,482...5,195,182
Ensembl chrNW_004624736:4,959,634...5,193,928 		JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chrNW_004624799:11,423,881...11,521,779
Ensembl chrNW_004624799:11,424,087...11,522,152 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		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_004624736:5,260,761...5,444,234
Ensembl chrNW_004624736:5,379,728...5,444,234 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chrNW_004624799:11,395,465...11,423,878
Ensembl chrNW_004624799:11,395,615...11,423,876 		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_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		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_004624736:4,878,241...4,934,000 JBrowse link
hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624747:12,261,546...12,275,229
Ensembl chrNW_004624747:12,261,623...12,274,859 		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_004624885:2,910,367...2,946,916
Ensembl chrNW_004624885:2,910,112...2,946,886 		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_004624802:10,809,234...10,847,762
Ensembl chrNW_004624802:10,809,252...10,846,693 		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_004624804:11,514,728...11,521,625 JBrowse link
Hypergastrinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reg1a regenerating family member 1 alpha ISO mRNA:increased expression:gastric corpus (human) RGD PMID:10348814 RGD:9850135 NCBI chrNW_004624749:23,993,755...23,995,923 JBrowse link
hyperimmunoglobulin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase onset
susceptibility		 ISO DNA:splice-site mutation:intron:IVS2+1G>T (human)
DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human)
DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)		 RGD PMID:11007475 PMID:11112359 PMID:15372234 PMID:17553565 RGD:11039457 RGD:11039483 RGD:11039485 RGD:1598906 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Cd40 CD40 molecule ISO DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		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_004624747:10,858,846...10,878,393
Ensembl chrNW_004624747:10,858,768...10,870,744 		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_004624747:10,837,743...10,858,758
Ensembl chrNW_004624747:10,834,306...10,857,595 		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_004624740:22,121,772...22,297,514
Ensembl chrNW_004624740:22,121,571...22,299,193 		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 RGD
CTD		 PMID:9034259 PMID:10337936 RGD:11035279 NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15044820 NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710 		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_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624 		JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:2123716 RGD:1599161 NCBI chrNW_004624784:12,249,283...12,251,215
Ensembl chrNW_004624784:12,249,283...12,251,136 		JBrowse link
G B2m beta-2-microglobulin susceptibility ISO DNA:transversion:exon;913G>C RGD PMID:16549777 RGD:1599429 NCBI chrNW_004624804:11,514,728...11,521,625 JBrowse link
G Lipc lipase C, hepatic type ISO protein:reduced expression:plasma (rat) RGD PMID:10844597 RGD:2308785 NCBI chrNW_004624781:13,342,469...13,468,120
Ensembl chrNW_004624781:13,342,357...13,455,055 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO associated with Liver Cirrhosis, Experimental RGD PMID:16169275 RGD:1643028 NCBI chrNW_004624871:1,667,292...1,705,550
Ensembl chrNW_004624871:1,667,291...1,702,783 		JBrowse link
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oas1 2'-5'-oligoadenylate synthetase 1 ISO ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia OMIM
ClinVar		 PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 More... NCBI chrNW_004624747:19,428,994...19,434,512
Ensembl chrNW_004624747:19,428,833...19,434,550 		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_004624828:2,638,202...2,647,591
Ensembl chrNW_004624828:2,637,257...2,677,720 		JBrowse link
G Atg4d autophagy related 4D cysteine peptidase ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004624828:2,617,853...2,624,756
Ensembl chrNW_004624828:2,617,773...2,624,756 		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_004624828:2,523,761...2,533,387
Ensembl chrNW_004624828:2,521,272...2,535,475 		JBrowse link
G Cdkn2d cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004624828:2,634,347...2,637,123
Ensembl chrNW_004624828:2,634,654...2,636,701 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004624828:2,727,136...2,805,248
Ensembl chrNW_004624828:2,727,112...2,807,319 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004624828:2,316,042...2,358,866
Ensembl chrNW_004624828:2,315,251...2,358,711 		JBrowse link
G Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004624828:2,468,761...2,473,657
Ensembl chrNW_004624828:2,468,757...2,473,600 		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_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		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_004624828:2,451,978...2,454,863
Ensembl chrNW_004624828:2,452,151...2,454,863 		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_004624828:2,454,771...2,461,732
Ensembl chrNW_004624828:2,454,753...2,461,732 		JBrowse link
G Ilf3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004624828:2,683,868...2,715,702 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_004624828:2,580,812...2,595,023
Ensembl chrNW_004624828:2,580,861...2,595,275 		JBrowse link
G Kri1 KRI1 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004624828:2,624,413...2,633,931
Ensembl chrNW_004624828:2,624,894...2,633,889 		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_004624828:2,419,412...2,424,610
Ensembl chrNW_004624828:2,419,612...2,425,326 		JBrowse link
G Pde4a phosphodiesterase 4A ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004624828:2,540,121...2,574,706
Ensembl chrNW_004624828:2,543,809...2,572,945 		JBrowse link
G Qtrt1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004624828:2,719,810...2,724,521
Ensembl chrNW_004624828:2,719,456...2,725,517 		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_004624828:2,473,824...2,486,967
Ensembl chrNW_004624828:2,474,217...2,487,927 		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_004624828:2,371,750...2,419,330
Ensembl chrNW_004624828:2,390,742...2,394,106 		JBrowse link
G S1pr5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004624828:2,590,664...2,602,136
Ensembl chrNW_004624828:2,592,475...2,601,943 		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_004624828:2,655,107...2,678,347
Ensembl chrNW_004624828:2,655,113...2,677,135 		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_004624828:2,499,811...2,518,817
Ensembl chrNW_004624828:2,500,339...2,517,694 		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_004624828:2,463,440...2,468,555
Ensembl chrNW_004624828:2,463,685...2,468,174 		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_004624784:14,427,297...14,439,027
Ensembl chrNW_004624784:14,427,130...14,439,038 		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_004624829:4,329,959...4,714,329
Ensembl chrNW_004624829:4,329,824...4,714,298 		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_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		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_004624747:12,287,817...12,426,340
Ensembl chrNW_004624747:12,307,541...12,424,897 		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_004624747:12,261,546...12,275,229
Ensembl chrNW_004624747:12,261,623...12,274,859 		JBrowse link
immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 OMIM
ClinVar		 PMID:9536098 PMID:11007475 PMID:11112359 PMID:12715918 PMID:12910268 More... NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Clec4e C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chrNW_004624860:4,108,782...4,113,693
Ensembl chrNW_004624860:4,108,640...4,113,839 		JBrowse link