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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:combined T cell and B cell immunodeficiency
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Accession:DOID:628 term browser browse the term
Definition:A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. (DO)
Synonyms:exact_synonym: CIDX;   COMBINED T AND B CELL IMMUNODEFICIENCY;   IMD6;   X Linked Immunodeficiency Disease;   X-Linked Combined Immunodeficiency Diseases;   X-linked combined immunodeficiencies;   X-linked combined immunodeficiency;   X-linked immunodeficiency diseases;   X-linked immunodeficiency syndrome;   X-linked immunodeficiency syndromes;   XCID;   congenital combined immunodeficiency;   immunodeficiency 6
 narrow_synonym: Combined immunodeficiency, X-linked, moderate
 primary_id: MESH:D053632
 alt_id: OMIA:000899;   OMIM:312863
 xref: ICD10CM:D81;   ICD9CM:279.2;   NCI:C27871;   ORDO:101972
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
combined T cell and B cell immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CD27 CD27 molecule IAGP ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency		 ClinVar PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645 NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718 		JBrowse link
G CD27-AS1 CD27 antisense RNA 1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency		 ClinVar PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645 NCBI chr12:6,439,001...6,451,517
Ensembl chr12:6,439,001...6,451,607 		JBrowse link
G CD40LG CD40 ligand IAGP DNA:polymorphism: :p.G219R (human) RGD PMID:21543760 RGD:5490593 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:25039795 PMID:25627829 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO
IAGP		 ClinVar Annotator: match by term: Combined immunodeficiency, X-linked OMIM
ClinVar
RGD		 PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:7973658 More... RGD:2316325 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G LOC126863274 MED14-independent group 3 enhancer GRCh37_chrX:70330888-70332087 IAGP ClinVar Annotator: match by term: Combined immunodeficiency, X-linked ClinVar PMID:25741868 NCBI chr  X:71,111,038...71,112,237 JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG4 adhesion G protein-coupled receptor G4 IAGP ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,300,963...136,416,890
Ensembl chr  X:136,300,963...136,416,890 		JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 IAGP ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,665,550...136,780,932
Ensembl chr  X:136,665,547...136,780,932 		JBrowse link
G BRS3 bombesin receptor subtype 3 IAGP ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,487,947...136,493,780
Ensembl chr  X:136,487,947...136,493,780 		JBrowse link
G CD40LG CD40 ligand disease_progression IDA
IAGP
ISO
EXP		 ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
ClinVar Annotator: match by term: Hyper IgM immunodeficiency, X-linked
ClinVar Annotator: match by term: IMMUNODEFICIENCY 3
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)		 ClinVar
RGD
CTD
OMIM		 PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G HTATSF1 HIV-1 Tat specific factor 1 IAGP ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,497,229...136,512,346
Ensembl chr  X:136,497,079...136,512,346 		JBrowse link
G MAP7D3 MAP7 domain containing 3 IAGP ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,213,220...136,256,482
Ensembl chr  X:136,213,220...136,256,482 		JBrowse link
G RBMX RNA binding motif protein X-linked IAGP ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G VGLL1 vestigial like family member 1 IAGP ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,532,215...136,556,799
Ensembl chr  X:136,532,215...136,556,807 		JBrowse link
G ZIC3 Zic family member 3 IAGP ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
DNA ligase IV deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIG4 DNA ligase 4 ISO
IAGP		 DNA:missense mutation: :p.Y288C (mouse)
ClinVar Annotator: match by term: DNA ligase IV deficiency
ClinVar Annotator: match by term: Lig4 syndrome
ClinVar Annotator: match by term: LIG4-Related Disorders
DNA:missense mutation: :p.R278H (mouse)
DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human)		 ClinVar
OMIM
RGD		 PMID:2523926 PMID:7063650 PMID:10395545 PMID:11349135 PMID:11779494 More... RGD:8694074, RGD:13204717, RGD:13204707 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		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 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 ClinVar PMID:25741868 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP DNA:mutation:splicing site:
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
ClinVar Annotator: match by term: Anhidrotic ectodermal dysplasia with immune deficiency		 ClinVar
OMIM
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G LOC126863348 P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:153769749-153770948 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 ClinVar PMID:25741868 NCBI chr  X:154,541,534...154,542,733 JBrowse link
immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPTL7 angiopoietin like 7 IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:11,189,355...11,195,981
Ensembl chr 1:11,189,355...11,195,981 		JBrowse link
G C1orf127 chromosome 1 open reading frame 127 IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:10,946,475...10,982,076
Ensembl chr 1:10,946,471...10,982,076 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G CENPS centromere protein S IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:10,430,433...10,442,808
Ensembl chr 1:10,430,433...10,442,808 		JBrowse link
G CENPS-CORT CENPS-CORT readthrough IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:10,430,433...10,452,153
Ensembl chr 1:10,430,102...10,452,153 		JBrowse link
G CLSTN1 calsyntenin 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:9,728,926...9,824,526
Ensembl chr 1:9,728,926...9,823,984 		JBrowse link
G CORT cortistatin IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:10,450,031...10,451,998
Ensembl chr 1:10,450,031...10,451,998 		JBrowse link
G CTNNBIP1 catenin beta interacting protein 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:9,848,276...9,910,269
Ensembl chr 1:9,848,276...9,910,336 		JBrowse link
G DFFA DNA fragmentation factor subunit alpha IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:10,456,522...10,472,529
Ensembl chr 1:10,456,522...10,472,529 		JBrowse link
G EXOSC10 exosome component 10 IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:11,066,618...11,099,869
Ensembl chr 1:11,066,618...11,099,869 		JBrowse link
G KIF1B kinesin family member 1B IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G LOC126805612 MED14-independent group 3 enhancer GRCh37_chr1:9778914-9780113 IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:9536098 PMID:17576681 PMID:24610295 PMID:25741868 PMID:28492532 More... NCBI chr 1:9,718,285...9,720,237 JBrowse link
G LZIC leucine zipper and CTNNBIP1 domain containing IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:9,922,118...9,943,391
Ensembl chr 1:9,922,113...9,943,407 		JBrowse link
G MASP2 MBL associated serine protease 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758 		JBrowse link
G PGD phosphogluconate dehydrogenase IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:10,399,064...10,420,511
Ensembl chr 1:10,398,592...10,420,511 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive
ClinVar Annotator: match by term: Activated PI3K-delta syndrome
ClinVar Annotator: match by term: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE		 ClinVar
OMIM		 PMID:9536098 PMID:16984281 PMID:17576681 PMID:24136356 PMID:24165795 More... NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G RBP7 retinol binding protein 7 IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:9,997,228...10,016,021
Ensembl chr 1:9,997,206...10,016,021 		JBrowse link
G SRM spermidine synthase IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:11,054,589...11,060,018
Ensembl chr 1:11,054,584...11,060,020 		JBrowse link
G TARDBP TAR DNA binding protein IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528 		JBrowse link
G UBE4B ubiquitination factor E4B IAGP ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239 		JBrowse link
immunodeficiency 15A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP ClinVar Annotator: match by term: Immunodeficiency 15a
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15A		 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30337470 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G LOC126860373 CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:42150166-42151365 IAGP ClinVar Annotator: match by term: Immunodeficiency 15a ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:42,292,648...42,293,847 JBrowse link
immunodeficiency 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,292,391...1,307,930
Ensembl chr 1:1,292,390...1,309,609 		JBrowse link
G ACTRT2 actin related protein T2 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,021,467...3,022,903
Ensembl chr 1:3,021,467...3,022,903 		JBrowse link
G AGRN agrin IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,418,420...1,421,276
Ensembl chr 1:1,418,420...1,421,769 		JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,454,665...3,481,113
Ensembl chr 1:3,454,665...3,481,113 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATAD3B ATPase family AAA domain containing 3B IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,471,765...1,509,466
Ensembl chr 1:1,471,765...1,497,848 		JBrowse link
G ATAD3C ATPase family AAA domain containing 3C IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,449,689...1,470,163
Ensembl chr 1:1,449,689...1,470,163 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,373,736...1,375,207
Ensembl chr 1:1,373,730...1,375,207 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ClinVar Annotator: match by term: Immunodeficiency 16
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency		 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G C1orf159 chromosome 1 open reading frame 159 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,081,823...1,116,089
Ensembl chr 1:1,081,818...1,116,361 		JBrowse link
G C1QTNF12 C1q and TNF related 12 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,242,453...1,247,280
Ensembl chr 1:1,242,446...1,246,722 		JBrowse link
G CALML6 calmodulin like 6 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,915,260...1,917,296
Ensembl chr 1:1,915,108...1,917,296 		JBrowse link
G CCDC27 coiled-coil domain containing 27 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,752,450...3,771,645
Ensembl chr 1:3,746,460...3,771,645 		JBrowse link
G CCNL2 cyclin L2 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,385,711...1,399,335
Ensembl chr 1:1,385,711...1,399,335 		JBrowse link
G CDK11A cyclin dependent kinase 11A IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,702,379...1,724,357
Ensembl chr 1:1,702,379...1,724,357 		JBrowse link
G CDK11B cyclin dependent kinase 11B IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,635,225...1,659,004
Ensembl chr 1:1,635,225...1,659,012 		JBrowse link
G CEP104 centrosomal protein 104 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,324,802...1,328,896
Ensembl chr 1:1,324,756...1,328,896 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G FAAP20 FA core complex associated protein 20 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,184,477...2,212,720
Ensembl chr 1:2,184,461...2,212,720 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,598,012...1,600,135
Ensembl chr 1:1,598,012...1,600,135 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G HES4 hes family bHLH transcription factor 4 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:998,964...1,000,097
Ensembl chr 1:998,962...1,000,172 		JBrowse link
G HES5 hes family bHLH transcription factor 5 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,528,745...2,530,263
Ensembl chr 1:2,528,745...2,530,263 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540 		JBrowse link
G KLHL17 kelch like family member 17 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:960,584...965,719
Ensembl chr 1:960,584...965,719 		JBrowse link
G LRRC47 leucine rich repeat containing 47 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,778,559...3,796,498
Ensembl chr 1:3,778,559...3,796,498 		JBrowse link
G MEGF6 multiple EGF like domains 6 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,487,951...3,624,786
Ensembl chr 1:3,487,951...3,611,508 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,613,731...1,630,605
Ensembl chr 1:1,615,454...1,630,605 		JBrowse link
G MIR200A microRNA 200a IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952 		JBrowse link
G MIR200B microRNA 200b IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198 		JBrowse link
G MIR429 microRNA 429 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087 		JBrowse link
G MIR551A microRNA 551a IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,560,695...3,560,790
Ensembl chr 1:3,560,695...3,560,790 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MORN1 MORN repeat containing 1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,321,253...2,391,554
Ensembl chr 1:2,321,253...2,391,707 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,401,909...1,407,293
Ensembl chr 1:1,401,909...1,407,293 		JBrowse link
G MXRA8 matrix remodeling associated 8 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,352,689...1,363,541
Ensembl chr 1:1,352,689...1,361,777 		JBrowse link
G NADK NAD kinase IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,751,232...1,780,514
Ensembl chr 1:1,751,232...1,780,457 		JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:944,203...959,256
Ensembl chr 1:944,203...959,309 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,508,537...2,526,596
Ensembl chr 1:2,508,537...2,526,597 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PLCH2 phospholipase C eta 2 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,415,943...2,505,532
Ensembl chr 1:2,425,980...2,505,532 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:966,482...975,865
Ensembl chr 1:966,482...975,865 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRKCZ protein kinase C zeta IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRXL2B peroxiredoxin like 2B IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,586,523...2,591,468
Ensembl chr 1:2,586,491...2,591,469 		JBrowse link
G PUSL1 pseudouridine synthase like 1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,308,597...1,311,677
Ensembl chr 1:1,308,597...1,311,677 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,391,841...2,405,436
Ensembl chr 1:2,391,775...2,405,442 		JBrowse link
G RNF223 ring finger protein 223 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,070,967...1,074,306
Ensembl chr 1:1,070,967...1,074,306 		JBrowse link
G SAMD11 sterile alpha motif domain containing 11 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:923,923...944,574
Ensembl chr 1:923,923...944,575 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029 		JBrowse link
G SDF4 stromal cell derived factor 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 16
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency		 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,216,931...1,232,001
Ensembl chr 1:1,216,931...1,232,031 		JBrowse link
G SKI SKI proto-oncogene IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC35E2A solute carrier family 35 member E2A (pseudogene) IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,727,385...1,746,070
Ensembl chr 1:1,734,690...1,739,557 		JBrowse link
G SLC35E2B solute carrier family 35 member E2B IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,661,478...1,692,795
Ensembl chr 1:1,659,529...1,692,795 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,772,749...3,775,956
Ensembl chr 1:3,772,749...3,775,982 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,541,673...1,574,863
Ensembl chr 1:1,541,673...1,574,863 		JBrowse link
G TAS1R3 taste 1 receptor member 3 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,331,280...1,335,314
Ensembl chr 1:1,331,280...1,335,314 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TMEM52 transmembrane protein 52 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,917,591...1,919,279
Ensembl chr 1:1,917,590...1,919,279 		JBrowse link
G TMEM88B transmembrane protein 88B IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,425,871...1,430,255
Ensembl chr 1:1,425,871...1,430,255 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,554,234...2,563,829
Ensembl chr 1:2,555,639...2,565,382 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 16
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency		 ClinVar
OMIM		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:16199547 PMID:17576681 More... NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		JBrowse link
G TP73 tumor protein p73 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,625,015...3,630,127
Ensembl chr 1:3,625,015...3,630,127 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,636,986...2,801,693
Ensembl chr 1:2,636,986...2,801,693 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,173,880...1,197,936
Ensembl chr 1:1,173,880...1,197,936 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,253,912...1,273,854
Ensembl chr 1:1,253,909...1,273,864 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 IAGP ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,630,770...3,650,103
Ensembl chr 1:3,630,767...3,652,761 		JBrowse link
immunodeficiency 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOP1A DOP1 leucine zipper like protein A IAGP ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More... NCBI chr 6:83,067,671...83,171,350
Ensembl chr 6:83,067,666...83,171,350 		JBrowse link
G ME1 malic enzyme 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 6:83,210,402...83,431,051
Ensembl chr 6:83,210,402...83,431,051 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar
OMIM		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PRSS35 serine protease 35 IAGP ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 6:83,512,534...83,525,704
Ensembl chr 6:83,512,534...83,525,704 		JBrowse link
G RWDD2A RWD domain containing 2A IAGP ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 6:83,193,357...83,198,935
Ensembl chr 6:83,193,357...83,198,935 		JBrowse link
G SNAP91 synaptosome associated protein 91 IAGP ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 6:83,552,885...83,709,393
Ensembl chr 6:83,552,880...83,709,691 		JBrowse link
G TPBG trophoblast glycoprotein IAGP ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 6:82,362,983...82,367,420
Ensembl chr 6:82,363,206...82,367,420 		JBrowse link
G UBE3D ubiquitin protein ligase E3D IAGP ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 6:82,880,802...83,065,841
Ensembl chr 6:82,892,390...83,065,841 		JBrowse link
immunodeficiency 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 36 ClinVar
OMIM		 PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 More... NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
immunodeficiency 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL10 BCL10 immune signaling adaptor IAGP ClinVar Annotator: match by term: Immunodeficiency 37 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:24033266 PMID:25365219 PMID:25741868 More... NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632 		JBrowse link
G LOC126805771 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85741508-85742707 IAGP ClinVar Annotator: match by term: Immunodeficiency 37 ClinVar PMID:24033266 PMID:25365219 PMID:28492532 PMID:32008135 NCBI chr 1:85,275,825...85,277,024 JBrowse link
immunodeficiency 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5orf58 chromosome 5 open reading frame 58 IAGP ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 5:170,232,985...170,252,570
Ensembl chr 5:170,229,104...170,252,575 		JBrowse link
G DOCK2 dedicator of cytokinesis 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 40
ClinVar Annotator: match by term: DOCK2 deficiency		 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26083206 More... NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382 		JBrowse link
G FOXI1 forkhead box I1 IAGP ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734 		JBrowse link
G INSYN2B inhibitory synaptic factor family member 2B IAGP ClinVar Annotator: match by term: Immunodeficiency 40
ClinVar Annotator: match by term: DOCK2 deficiency		 ClinVar PMID:25741868 PMID:26083206 PMID:28492532 NCBI chr 5:169,861,303...169,980,495
Ensembl chr 5:169,861,303...169,980,495 		JBrowse link
G LOC126807589 BRD4-independent group 4 enhancer GRCh37_chr5:169122482-169123681 IAGP ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:28492532 NCBI chr 5:169,695,478...169,696,677 JBrowse link
G MIR103A1 microRNA 103a-1 IAGP ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 5:168,560,896...168,560,973
Ensembl chr 5:168,560,896...168,560,973 		JBrowse link
G PANK3 pantothenate kinase 3 IAGP ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 5:168,548,495...168,579,368
Ensembl chr 5:168,548,495...168,579,368 		JBrowse link
G RARS1 arginyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301 		JBrowse link
G SLIT3 slit guidance ligand 3 IAGP ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 5:168,661,740...169,301,139
Ensembl chr 5:168,661,733...169,301,139 		JBrowse link
G SPDL1 spindle apparatus coiled-coil protein 1 IAGP ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 5:169,583,773...169,604,778
Ensembl chr 5:169,583,636...169,604,778 		JBrowse link
G WWC1 WW and C2 domain containing 1 IAGP ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 5:168,291,645...168,472,303
Ensembl chr 5:168,291,645...168,472,303 		JBrowse link
immunodeficiency 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFRC transferrin receptor IAGP ClinVar Annotator: match by term: Immunodeficiency 46
ClinVar Annotator: match by term: TFRC-related combined immunodeficiency		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26642240 PMID:28492532 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153 		JBrowse link
immunodeficiency 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RELB RELB proto-oncogene, NF-kB subunit IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 53
ClinVar Annotator: match by term: Immunodeficiency 53		 ClinVar
OMIM		 PMID:25741868 PMID:26385063 PMID:28492532 NCBI chr19:45,001,464...45,038,192
Ensembl chr19:45,001,461...45,038,192 		JBrowse link
immunodeficiency 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL21R interleukin 21 receptor IAGP ClinVar Annotator: match by term: IL21R immunodeficiency ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22235133 PMID:23440042 More... NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042 		JBrowse link
G IL21R-AS1 IL21R antisense RNA 1 IAGP ClinVar Annotator: match by term: IL21R immunodeficiency ClinVar PMID:25741868 PMID:26193622 PMID:28492532 NCBI chr16:27,447,669...27,453,393
Ensembl chr16:27,447,669...27,453,393 		JBrowse link
immunodeficiency 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency ClinVar PMID:25741868 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 58
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency		 ClinVar
OMIM		 PMID:16199547 PMID:25741868 PMID:27647349 PMID:27896283 PMID:28112205 More... NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
immunodeficiency 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BACH2 BTB domain and CNC homolog 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 60
ClinVar Annotator: match by term: IMMUNODEFICIENCY 60		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530713 NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843 		JBrowse link
G MPEG1 macrophage expressed 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 60 ClinVar PMID:25741868 NCBI chr11:59,208,510...59,212,927
Ensembl chr11:59,208,510...59,212,927 		JBrowse link
immunodeficiency 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IVNS1ABP influenza virus NS1A binding protein IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 70 ClinVar
OMIM		 PMID:32499645 NCBI chr 1:185,296,388...185,317,243
Ensembl chr 1:185,296,388...185,317,273 		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 IAGP ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3		 ClinVar
OMIM		 PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 More... NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G LOC127893450 CRISPRi-FlowFISH-validated CD40 regulatory element GRCh37_chr20:44746135-44748232 IAGP ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3		 ClinVar PMID:12593727 PMID:14611700 PMID:15272925 PMID:15307939 PMID:15731360 More... NCBI chr20:46,117,496...46,119,593 JBrowse link
leukocyte adhesion deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FERMT3 FERM domain containing kindlin 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896 		JBrowse link
G ITGB2 integrin subunit beta 2 IAGP
EXP		 DNA:point_mutations:CDS:compound heterozygote, amino acid arg593cys and lys196thr
DNA:mutations:cds:p.D231H, G284S (human)
DNA:mutation:exon:p.R188X(human)
DNA:mutations:multiple
DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human)
ClinVar Annotator: match by term: Leukocyte adhesion deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9653089 PMID:1968911 PMID:10886250 PMID:21103413 PMID:20549317 More... RGD:1600220, RGD:6482222, RGD:6482223, RGD:6482224, RGD:6482225 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
leukocyte adhesion deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FERMT3 FERM domain containing kindlin 3 IAGP DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) RGD PMID:19064721 RGD:11352306 NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896 		JBrowse link
G ITGB2 integrin subunit beta 2 susceptibility IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency type 1
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1
DNA:polymorphisms:multiple (human)		 ClinVar
OMIM
RGD		 PMID:1346132 PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 More... RGD:6482224 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
G ITGB2-AS1 ITGB2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar NCBI chr21:44,921,035...44,929,680
Ensembl chr21:44,921,051...44,929,680 		JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 IAGP ClinVar Annotator: match by term: Lymphocyte function-associated antigen 1 immunodeficiency ClinVar PMID:17878938 PMID:26639818 NCBI chr 2:218,822,308...218,831,803
Ensembl chr 2:218,822,308...218,832,086 		JBrowse link
leukocyte adhesion deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHNAK AHNAK nucleoprotein IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,433,544...62,546,806
Ensembl chr11:62,433,542...62,556,235 		JBrowse link
G ARL2 ADP ribosylation factor like GTPase 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,014,160...65,022,184
Ensembl chr11:65,014,160...65,022,184 		JBrowse link
G ASRGL1 asparaginase and isoaspartyl peptidase 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,337,448...62,401,431
Ensembl chr11:62,337,448...62,393,412 		JBrowse link
G ATG2A autophagy related 2A IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,894,546...64,917,209
Ensembl chr11:64,894,546...64,917,211 		JBrowse link
G ATL3 atlastin GTPase 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,624,087...63,671,974
Ensembl chr11:63,624,087...63,671,921 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G BAD BCL2 associated agonist of cell death IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704 		JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,987,945...64,996,971
Ensembl chr11:64,987,945...64,997,018 		JBrowse link
G BEST1 bestrophin 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CAPN1 calpain 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006 		JBrowse link
G CATSPERZ catsper channel auxiliary subunit zeta IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,300,358...64,304,770
Ensembl chr11:64,300,358...64,304,770 		JBrowse link
G CBLIF cobalamin binding intrinsic factor IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,829,273...59,845,499
Ensembl chr11:59,829,273...59,845,499 		JBrowse link
G CCDC86 coiled-coil domain containing 86 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,842,113...60,851,081
Ensembl chr11:60,842,113...60,851,081 		JBrowse link
G CCDC88B coiled-coil domain containing 88B IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,340,204...64,357,534
Ensembl chr11:64,340,204...64,357,534 		JBrowse link
G CD5 CD5 molecule IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,093,963...61,127,852
Ensembl chr11:61,102,489...61,127,852 		JBrowse link
G CD6 CD6 molecule IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,971,680...61,020,377
Ensembl chr11:60,971,680...61,020,377 		JBrowse link
G CDC42BPG CDC42 binding protein kinase gamma IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,823,052...64,844,653
Ensembl chr11:64,823,052...64,844,653 		JBrowse link
G CDCA5 cell division cycle associated 5 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,061,093...65,084,040
Ensembl chr11:65,066,300...65,084,164 		JBrowse link
G CHRM1 cholinergic receptor muscarinic 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,908,679...62,921,878
Ensembl chr11:62,908,679...62,921,807 		JBrowse link
G COX8A cytochrome c oxidase subunit 8A IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,974,620...63,976,543
Ensembl chr11:63,974,620...63,976,543 		JBrowse link
G CPSF7 cleavage and polyadenylation specific factor 7 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,402,729...61,429,975
Ensembl chr11:61,402,641...61,430,031 		JBrowse link
G CSKMT citrate synthase lysine methyltransferase IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,665,312...62,668,108
Ensembl chr11:62,665,309...62,668,496 		JBrowse link
G CYB561A3 cytochrome b561 family member A3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,348,745...61,362,283
Ensembl chr11:61,348,754...61,362,283 		JBrowse link
G DAGLA diacylglycerol lipase alpha IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,680,391...61,747,001
Ensembl chr11:61,680,391...61,747,001 		JBrowse link
G DDB1 damage specific DNA binding protein 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596 		JBrowse link
G DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,230,432...64,234,281
Ensembl chr11:64,230,278...64,234,286 		JBrowse link
G DTX4 deltex E3 ubiquitin ligase 4 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,171,430...59,208,588
Ensembl chr11:59,171,430...59,208,588 		JBrowse link
G EEF1G eukaryotic translation elongation factor 1 gamma IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,559,596...62,573,891
Ensembl chr11:62,559,596...62,574,086 		JBrowse link
G EHD1 EH domain containing 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,851,642...64,879,693
Ensembl chr11:64,851,642...64,888,296 		JBrowse link
G EML3 EMAP like 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,602,218...62,612,775
Ensembl chr11:62,602,218...62,612,775 		JBrowse link
G ESRRA estrogen related receptor alpha IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,305,524...64,316,743
Ensembl chr11:64,305,497...64,316,743 		JBrowse link
G FADS1 fatty acid desaturase 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,799,627...61,817,003
Ensembl chr11:61,799,627...61,829,318 		JBrowse link
G FADS2 fatty acid desaturase 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,816,203...61,867,354
Ensembl chr11:61,792,980...61,867,354 		JBrowse link
G FADS3 fatty acid desaturase 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,873,526...61,892,224
Ensembl chr11:61,873,519...61,892,051 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		JBrowse link
G FAU FAU ubiquitin like and ribosomal protein S30 fusion IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,120,630...65,122,134
Ensembl chr11:65,120,630...65,122,177 		JBrowse link
G FEN1 flap structure-specific endonuclease 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,792,911...61,797,238
Ensembl chr11:61,792,911...61,797,238 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 IAGP DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human)
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
ClinVar Annotator: match by term: Leukocyte adhesion deficiency, type III		 ClinVar
OMIM
RGD		 PMID:9536098 PMID:12511588 PMID:16199547 PMID:17576681 PMID:18779414 More... RGD:11352305 NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896 		JBrowse link
G FKBP2 FKBP prolyl isomerase 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,241,095...64,244,135
Ensembl chr11:64,241,003...64,244,132 		JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,035,931...64,119,171
Ensembl chr11:64,035,931...64,119,173 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G GANAB glucosidase II alpha subunit IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726 		JBrowse link
G GNG3 G protein subunit gamma 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,706,446...62,709,201
Ensembl chr11:62,707,676...62,709,201 		JBrowse link
G GPHA2 glycoprotein hormone subunit alpha 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,934,471...64,937,708
Ensembl chr11:64,934,471...64,935,893 		JBrowse link
G GPR137 G protein-coupled receptor 137 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,270,531...64,289,500
Ensembl chr11:64,270,062...64,289,500 		JBrowse link
G HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,712,630...62,727,457
Ensembl chr11:62,712,630...62,727,457 		JBrowse link
G INCENP inner centromere protein IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,124,011...62,153,169
Ensembl chr11:62,123,998...62,153,169 		JBrowse link
G INTS5 integrator complex subunit 5 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,646,848...62,653,302
Ensembl chr11:62,646,848...62,653,302 		JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031 		JBrowse link
G LBHD1 LBH domain containing 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,662,817...62,672,267
Ensembl chr11:62,662,817...62,672,267 		JBrowse link
G LGALS12 galectin 12 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,506,084...63,516,772
Ensembl chr11:63,506,052...63,516,774 		JBrowse link
G LRRC10B leucine rich repeat containing 10B IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,508,749...61,511,018
Ensembl chr11:61,508,749...61,511,018 		JBrowse link
G LRRN4CL LRRN4 C-terminal like IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,686,406...62,689,530
Ensembl chr11:62,686,406...62,689,530 		JBrowse link
G MACROD1 mono-ADP ribosylhydrolase 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,998,558...64,166,113
Ensembl chr11:63,998,558...64,166,113 		JBrowse link
G MAJIN membrane anchored junction protein IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,938,230...64,972,108
Ensembl chr11:64,937,517...64,972,108 		JBrowse link
G MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,784,918...64,803,214
Ensembl chr11:64,784,918...64,803,241 		JBrowse link
G MARK2 microtubule affinity regulating kinase 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,839,110...63,911,020
Ensembl chr11:63,838,928...63,911,020 		JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MIR192 microRNA 192 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246 		JBrowse link
G MIR194-2 microRNA 194-2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,891,355...64,891,439
Ensembl chr11:64,891,355...64,891,439 		JBrowse link
G MPEG1 macrophage expressed 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,208,510...59,212,927
Ensembl chr11:59,208,510...59,212,927 		JBrowse link
G MRPL16 mitochondrial ribosomal protein L16 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,806,140...59,810,778
Ensembl chr11:59,806,140...59,810,778 		JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,122,183...65,127,371
Ensembl chr11:65,122,183...65,127,371 		JBrowse link
G MS4A1 membrane spanning 4-domains A1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752 		JBrowse link
G MS4A10 membrane spanning 4-domains A10 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,785,333...60,801,305
Ensembl chr11:60,785,333...60,801,305 		JBrowse link
G MS4A12 membrane spanning 4-domains A12 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,492,778...60,507,430
Ensembl chr11:60,492,778...60,507,430 		JBrowse link
G MS4A13 membrane spanning 4-domains A13 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,515,392...60,543,424
Ensembl chr11:60,515,392...60,542,721 		JBrowse link
G MS4A14 membrane spanning 4-domains A14 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,396,459...60,417,756
Ensembl chr11:60,378,530...60,417,756 		JBrowse link
G MS4A15 membrane spanning 4-domains A15 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,756,867...60,776,733
Ensembl chr11:60,756,867...60,776,733 		JBrowse link
G MS4A18 membrane spanning 4-domains A18 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,724,720...60,745,028
Ensembl chr11:60,724,720...60,745,028 		JBrowse link
G MS4A2 membrane spanning 4-domains A2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,088,259...60,098,467
Ensembl chr11:60,088,261...60,098,467 		JBrowse link
G MS4A3 membrane spanning 4-domains A3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,056,665...60,071,115
Ensembl chr11:60,056,587...60,071,115 		JBrowse link
G MS4A4A membrane spanning 4-domains A4A IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,280,666...60,308,970
Ensembl chr11:60,185,657...60,318,080 		JBrowse link
G MS4A4E membrane spanning 4-domains A4E IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,200,270...60,243,137
Ensembl chr11:60,200,270...60,243,137 		JBrowse link
G MS4A5 membrane spanning 4-domains A5 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,429,572...60,447,792
Ensembl chr11:60,429,572...60,455,214 		JBrowse link
G MS4A6A membrane spanning 4-domains A6A IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,171,607...60,184,666
Ensembl chr11:60,172,015...60,184,666 		JBrowse link
G MS4A6E membrane spanning 4-domains A6E IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,327,255...60,349,072
Ensembl chr11:60,327,255...60,396,596 		JBrowse link
G MS4A7 membrane spanning 4-domains A7 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,378,532...60,395,948
Ensembl chr11:60,378,485...60,395,951 		JBrowse link
G MS4A8 membrane spanning 4-domains A8 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,699,612...60,715,807
Ensembl chr11:60,699,585...60,715,807 		JBrowse link
G MTA2 metastasis associated 1 family member 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,593,214...62,601,865
Ensembl chr11:62,593,214...62,601,865 		JBrowse link
G MYRF myelin regulatory factor IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		JBrowse link
G NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,939,002...63,957,319
Ensembl chr11:63,938,959...63,957,319 		JBrowse link
G NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,044,818...65,061,203
Ensembl chr11:65,044,818...65,058,553 		JBrowse link
G NRXN2 neurexin 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,606,174...64,723,197
Ensembl chr11:64,606,174...64,723,197 		JBrowse link
G NUDT22 nudix hydrolase 22 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,226,258...64,230,269
Ensembl chr11:64,225,941...64,230,686 		JBrowse link
G NXF1 nuclear RNA export factor 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,792,130...62,805,440
Ensembl chr11:62,792,123...62,806,302 		JBrowse link
G OOSP2 oocyte secreted protein 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,040,409...60,048,044
Ensembl chr11:60,040,409...60,048,044 		JBrowse link
G OR10V1 olfactory receptor family 10 subfamily V member 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,712,916...59,713,845
Ensembl chr11:59,712,916...59,713,845 		JBrowse link
G OR4D10 olfactory receptor family 4 subfamily D member 10 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,473,315...59,479,361
Ensembl chr11:59,473,315...59,479,361 		JBrowse link
G OR4D11 olfactory receptor family 4 subfamily D member 11 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,503,576...59,504,511
Ensembl chr11:59,503,576...59,504,511 		JBrowse link
G OR4D6 olfactory receptor family 4 subfamily D member 6 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,456,961...59,457,905
Ensembl chr11:59,456,961...59,457,905 		JBrowse link
G OR4D9 olfactory receptor family 4 subfamily D member 9 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,511,539...59,520,703
Ensembl chr11:59,511,368...59,520,703 		JBrowse link
G OR5A1 olfactory receptor family 5 subfamily A member 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,436,469...59,451,380
Ensembl chr11:59,436,469...59,451,380 		JBrowse link
G OR5A2 olfactory receptor family 5 subfamily A member 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,416,969...59,426,413
Ensembl chr11:59,416,969...59,426,413 		JBrowse link
G OR5AN1 olfactory receptor family 5 subfamily AN member 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,358,895...59,371,714
Ensembl chr11:59,358,895...59,371,714 		JBrowse link
G OSBP oxysterol binding protein IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,574,398...59,615,774
Ensembl chr11:59,574,398...59,615,774 		JBrowse link
G OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,986,438...63,998,412
Ensembl chr11:63,985,853...64,001,811 		JBrowse link
G PATL1 PAT1 homolog 1, processing body mRNA decay factor IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,636,716...59,669,037
Ensembl chr11:59,636,716...59,669,037 		JBrowse link
G PGA3 pepsinogen A3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,203,515...61,213,098
Ensembl chr11:61,203,307...61,213,098 		JBrowse link
G PGA4 pepsinogen A4 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,222,347...61,231,694
Ensembl chr11:61,222,347...61,231,694 		JBrowse link
G PGA5 pepsinogen A5 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,241,175...61,251,444
Ensembl chr11:61,241,175...61,251,444 		JBrowse link
G PLAAT2 phospholipase A and acyltransferase 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,552,770...63,565,070
Ensembl chr11:63,552,770...63,563,379 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883 		JBrowse link
G PLAAT4 phospholipase A and acyltransferase 4 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,536,808...63,546,458
Ensembl chr11:63,536,808...63,546,462 		JBrowse link
G PLAAT5 phospholipase A and acyltransferase 5 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,461,404...63,491,167
Ensembl chr11:63,461,404...63,491,194 		JBrowse link
G PLCB3 phospholipase C beta 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,251,530...64,269,452
Ensembl chr11:64,251,530...64,269,150 		JBrowse link
G POLR2G RNA polymerase II subunit G IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,761,580...62,766,710
Ensembl chr11:62,761,565...62,766,710 		JBrowse link
G PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,244,479...64,246,943
Ensembl chr11:64,244,479...64,246,943 		JBrowse link
G PPP2R5B protein phosphatase 2 regulatory subunit B'beta IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,917,573...64,934,475
Ensembl chr11:64,917,553...64,934,475 		JBrowse link
G PRDX5 peroxiredoxin 5 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,318,121...64,321,811
Ensembl chr11:64,318,121...64,321,811 		JBrowse link
G PRPF19 pre-mRNA processing factor 19 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,890,547...60,906,585
Ensembl chr11:60,890,547...60,906,585 		JBrowse link
G PTGDR2 prostaglandin D2 receptor 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,850,933...60,855,950
Ensembl chr11:60,850,933...60,855,950 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
G RAB3IL1 RAB3A interacting protein like 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,897,301...61,946,323
Ensembl chr11:61,897,301...61,920,269 		JBrowse link
G RASGRP2 RAS guanyl releasing protein 2 ISS
IAGP		 OMIM:612840
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3		 MouseDO
ClinVar		 PMID:28492532 NCBI chr11:64,726,911...64,745,456
Ensembl chr11:64,726,911...64,745,456 		JBrowse link
G RCOR2 REST corepressor 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,911,230...63,927,762
Ensembl chr11:63,911,230...63,917,164 		JBrowse link
G ROM1 retinal outer segment membrane protein 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116 		JBrowse link
G RPS6KA4 ribosomal protein S6 kinase A4 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,359,162...64,372,215
Ensembl chr11:64,359,148...64,372,215 		JBrowse link
G RTN3 reticulon 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,681,450...63,759,891
Ensembl chr11:63,681,446...63,759,891 		JBrowse link
G SAC3D1 SAC3 domain containing 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,040,933...65,044,828
Ensembl chr11:65,040,901...65,044,828 		JBrowse link
G SAXO4 stabilizer of axonemal microtubules 4 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,481,120...61,490,928
Ensembl chr11:61,481,120...61,490,931 		JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195 		JBrowse link
G SCGB1D1 secretoglobin family 1D member 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,190,216...62,193,539
Ensembl chr11:62,190,216...62,193,539 		JBrowse link
G SCGB1D2 secretoglobin family 1D member 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,242,239...62,244,812
Ensembl chr11:62,242,239...62,244,812 		JBrowse link
G SCGB1D4 secretoglobin family 1D member 4 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,296,281...62,299,075
Ensembl chr11:62,296,281...62,299,075 		JBrowse link
G SCGB2A1 secretoglobin family 2A member 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,208,673...62,213,943
Ensembl chr11:62,208,673...62,213,943 		JBrowse link
G SCGB2A2 secretoglobin family 2A member 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,270,158...62,273,160
Ensembl chr11:62,270,158...62,273,160 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,733 		JBrowse link
G SF1 splicing factor 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,764,606...64,778,542
Ensembl chr11:64,764,606...64,778,786 		JBrowse link
G SLC15A3 solute carrier family 15 member 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,937,084...60,952,176
Ensembl chr11:60,937,060...60,952,653 		JBrowse link
G SLC22A10 solute carrier family 22 member 10 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,289,903...63,363,144
Ensembl chr11:63,268,022...63,311,783 		JBrowse link
G SLC22A11 solute carrier family 22 member 11 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,555,941...64,572,875
Ensembl chr11:64,555,690...64,572,875 		JBrowse link
G SLC22A12 solute carrier family 22 member 12 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353 		JBrowse link
G SLC22A24 solute carrier family 22 member 24 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,079,940...63,144,221
Ensembl chr11:63,079,940...63,144,221 		JBrowse link
G SLC22A25 solute carrier family 22 member 25 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,158,437...63,243,599
Ensembl chr11:63,158,437...63,243,599 		JBrowse link
G SLC22A6 solute carrier family 22 member 6 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,976,597...62,984,967
Ensembl chr11:62,936,385...62,984,967 		JBrowse link
G SLC22A8 solute carrier family 22 member 8 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,992,824...63,015,841
Ensembl chr11:62,989,154...63,015,841 		JBrowse link
G SLC22A9 solute carrier family 22 member 9 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,369,785...63,410,294
Ensembl chr11:63,369,785...63,410,294 		JBrowse link
G SLC3A2 solute carrier family 3 member 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,856,109...62,888,860
Ensembl chr11:62,856,004...62,888,880 		JBrowse link
G SNHG1 small nucleolar RNA host gene 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,851,978...62,855,885
Ensembl chr11:62,851,978...62,855,953 		JBrowse link
G SNORD22 small nucleolar RNA, C/D box 22 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,852,910...62,853,035
Ensembl chr11:62,852,910...62,853,035 		JBrowse link
G SNORD25 small nucleolar RNA, C/D box 25 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,855,565...62,855,631
Ensembl chr11:62,855,564...62,855,632 		JBrowse link
G SNORD26 small nucleolar RNA, C/D box 26 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,855,292...62,855,366
Ensembl chr11:62,855,292...62,855,366 		JBrowse link
G SNORD27 small nucleolar RNA, C/D box 27 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,855,012...62,855,083
Ensembl chr11:62,855,012...62,855,083 		JBrowse link
G SNORD28 small nucleolar RNA, C/D box 28 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,854,621...62,854,695
Ensembl chr11:62,854,621...62,854,695 		JBrowse link
G SNORD29 small nucleolar RNA, C/D box 29 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,853,904...62,853,968 JBrowse link
G SNORD30 small nucleolar RNA, C/D box 30 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,853,663...62,853,732
Ensembl chr11:62,853,663...62,853,732 		JBrowse link
G SNORD31 small nucleolar RNA, C/D box 31 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,853,326...62,853,393 JBrowse link
G SNX15 sorting nexin 15 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,027,439...65,040,572
Ensembl chr11:65,027,439...65,040,572 		JBrowse link
G SPDYC speedy/RINGO cell cycle regulator family member C IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,170,233...65,173,374
Ensembl chr11:65,170,233...65,173,374 		JBrowse link
G SPINDOC spindlin interactor and repressor of chromatin binding IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,813,456...63,827,716
Ensembl chr11:63,813,456...63,827,716 		JBrowse link
G STIP1 stress induced phosphoprotein 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,185,272...64,204,543
Ensembl chr11:64,185,272...64,204,543 		JBrowse link
G STX3 syntaxin 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882 		JBrowse link
G STX5 syntaxin 5 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,806,860...62,832,051
Ensembl chr11:62,806,860...62,832,051 		JBrowse link
G SYT7 synaptotagmin 7 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,513,714...61,588,387
Ensembl chr11:61,513,714...61,581,148 		JBrowse link
G SYVN1 synoviolin 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,127,279...65,134,519
Ensembl chr11:65,121,780...65,134,532 		JBrowse link
G TAF6L TATA-box binding protein associated factor 6 like IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,771,396...62,787,342
Ensembl chr11:62,771,357...62,787,342 		JBrowse link
G TCN1 transcobalamin 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:59,852,808...59,866,487
Ensembl chr11:59,852,800...59,866,489 		JBrowse link
G TKFC triokinase and FMN cyclase IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,333,228...61,353,426
Ensembl chr11:61,333,220...61,353,295 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,111,872...65,116,230
Ensembl chr11:65,111,845...65,116,384 		JBrowse link
G TMEM109 transmembrane protein 109 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,914,158...60,923,443
Ensembl chr11:60,914,158...60,923,443 		JBrowse link
G TMEM132A transmembrane protein 132A IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,924,460...60,937,159
Ensembl chr11:60,924,460...60,937,159 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM179B transmembrane protein 179B IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,787,402...62,790,400
Ensembl chr11:62,787,402...62,790,400 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM223 transmembrane protein 223 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,771,120...62,792,006
Ensembl chr11:62,771,629...62,792,006 		JBrowse link
G TMEM258 transmembrane protein 258 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,788,949...61,792,599
Ensembl chr11:61,768,501...61,792,802 		JBrowse link
G TRMT112 tRNA methyltransferase activator subunit 11-2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,316,460...64,318,596
Ensembl chr11:64,316,460...64,317,559 		JBrowse link
G TRPT1 tRNA phosphotransferase 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,223,799...64,226,257
Ensembl chr11:64,223,799...64,226,254 		JBrowse link
G TTC9C tetratricopeptide repeat domain 9C IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,728,049...62,738,636
Ensembl chr11:62,728,069...62,740,293 		JBrowse link
G TUT1 terminal uridylyl transferase 1, U6 snRNA-specific IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,575,052...62,591,523
Ensembl chr11:62,575,045...62,591,637 		JBrowse link
G UBXN1 UBX domain protein 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,676,500...62,679,073
Ensembl chr11:62,676,498...62,679,117 		JBrowse link
G UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,671,673...62,673,686
Ensembl chr11:62,670,273...62,673,686 		JBrowse link
G VEGFB vascular endothelial growth factor B IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:64,234,584...64,239,264
Ensembl chr11:64,234,584...64,239,264 		JBrowse link
G VPS37C VPS37C subunit of ESCRT-I IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,130,257...61,161,426
Ensembl chr11:61,130,257...61,161,615 		JBrowse link
G VPS51 VPS51 subunit of GARP complex IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862 		JBrowse link
G VWCE von Willebrand factor C and EGF domains IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:61,258,286...61,295,316
Ensembl chr11:61,258,286...61,295,316 		JBrowse link
G WDR74 WD repeat domain 74 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,832,905...62,841,809
Ensembl chr11:62,832,342...62,841,809 		JBrowse link
G ZBTB3 zinc finger and BTB domain containing 3 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:62,750,963...62,754,160
Ensembl chr11:62,748,319...62,754,184 		JBrowse link
G ZFPL1 zinc finger protein like 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,084,222...65,088,398
Ensembl chr11:65,084,210...65,088,398 		JBrowse link
G ZFTA zinc finger translocation associated IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:63,759,892...63,768,775
Ensembl chr11:63,759,892...63,768,775 		JBrowse link
G ZNHIT2 zinc finger HIT-type containing 2 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:65,116,403...65,117,701
Ensembl chr11:65,116,403...65,117,701 		JBrowse link
G ZP1 zona pellucida glycoprotein 1 IAGP ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:60,867,542...60,875,687
Ensembl chr11:60,867,542...60,875,693 		JBrowse link
purine nucleoside phosphorylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,061,264...21,090,248
Ensembl chr14:21,070,273...21,090,248 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G EDDM3A epididymal protein 3A IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,735,946...20,748,380
Ensembl chr14:20,745,887...20,748,380 		JBrowse link
G EDDM3B epididymal protein 3B IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,768,404...20,770,948
Ensembl chr14:20,768,404...20,770,948 		JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494 		JBrowse link
G METTL17 methyltransferase like 17 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,989,980...20,997,035
Ensembl chr14:20,989,973...20,997,035 		JBrowse link
G METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,498,138...21,511,340
Ensembl chr14:21,498,133...21,511,342 		JBrowse link
G NDRG2 NDRG family member 2 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,016,763...21,070,872
Ensembl chr14:21,016,763...21,070,872 		JBrowse link
G OR5AU1 olfactory receptor family 5 subfamily AU member 1 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,154,865...21,156,063
Ensembl chr14:21,148,370...21,159,060 		JBrowse link
G OR6S1 olfactory receptor family 6 subfamily S member 1 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,640,696...20,641,691
Ensembl chr14:20,640,696...20,641,691 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PIP4P1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,457,681...20,461,434
Ensembl chr14:20,457,681...20,461,465 		JBrowse link
G PNP purine nucleoside phosphorylase IAGP
EXP		 ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1384322 PMID:1560016 PMID:3029074 PMID:8931706 PMID:9067751 More... NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094 		JBrowse link
G RAB2B RAB2B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,459,020...21,476,959
Ensembl chr14:21,459,020...21,476,960 		JBrowse link
G RNASE1 ribonuclease A family member 1, pancreatic IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,801,228...20,802,844
Ensembl chr14:20,801,228...20,802,855 		JBrowse link
G RNASE10 ribonuclease A family member 10 (inactive) IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,504,233...20,513,884
Ensembl chr14:20,505,537...20,513,884 		JBrowse link
G RNASE11 ribonuclease A family member 11 (inactive) IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,582,892...20,590,257
Ensembl chr14:20,582,892...20,609,884 		JBrowse link
G RNASE12 ribonuclease A family member 12 (inactive) IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,590,073...20,591,376
Ensembl chr14:20,590,073...20,591,376 		JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,032,818...21,034,807
Ensembl chr14:21,032,818...21,034,807 		JBrowse link
G RNASE2 ribonuclease A family member 2 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,955,487...20,956,436
Ensembl chr14:20,955,487...20,956,436 		JBrowse link
G RNASE3 ribonuclease A family member 3 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,891,385...20,892,348
Ensembl chr14:20,891,385...20,892,348 		JBrowse link
G RNASE4 ribonuclease A family member 4 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,684,560...20,701,216
Ensembl chr14:20,684,560...20,701,216 		JBrowse link
G RNASE6 ribonuclease A family member k6 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,781,070...20,782,467
Ensembl chr14:20,781,268...20,782,467 		JBrowse link
G RNASE7 ribonuclease A family member 7 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,042,362...21,044,233
Ensembl chr14:21,042,316...21,044,234 		JBrowse link
G RNASE8 ribonuclease A family member 8 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,057,822...21,058,455
Ensembl chr14:21,057,822...21,058,455 		JBrowse link
G RNASE9 ribonuclease A family member 9 (inactive) IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,556,093...20,561,047
Ensembl chr14:20,556,093...20,560,931 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G SALL2 spalt like transcription factor 2 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,521,080...21,537,121
Ensembl chr14:21,521,080...21,537,216 		JBrowse link
G SLC39A2 solute carrier family 39 member 2 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,999,293...21,001,871
Ensembl chr14:20,999,255...21,001,871 		JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019 		JBrowse link
G TMEM253 transmembrane protein 253 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,098,836...21,103,724
Ensembl chr14:21,098,811...21,103,724 		JBrowse link
G TOX4 TOX high mobility group box family member 4 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,477,195...21,499,170
Ensembl chr14:21,476,597...21,499,175 		JBrowse link
G TPPP2 tubulin polymerization promoting protein family member 2 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,024,299...21,036,352
Ensembl chr14:21,024,109...21,036,276 		JBrowse link
G TRL-AAG2-3 tRNA-Leu (anticodon AAG) 2-3 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,610,132...20,610,213 JBrowse link
G TRP-AGG2-5 tRNA-Pro (anticodon AGG) 2-5 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,609,336...20,609,407 JBrowse link
G TRP-AGG2-6 tRNA-Pro (anticodon AGG) 2-6 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,613,401...20,613,472 JBrowse link
G TRT-TGT3-1 tRNA-Thr (anticodon TGT) 3-1 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:20,613,790...20,613,862 JBrowse link
G ZNF219 zinc finger protein 219 IAGP ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr14:21,090,077...21,104,722
Ensembl chr14:21,090,077...21,104,722 		JBrowse link
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia		 ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia		 ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G MAGT1 magnesium transporter 1 IAGP ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia		 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 More... NCBI chr  X:77,825,747...77,895,568
Ensembl chr  X:77,825,747...77,899,271 		JBrowse link
G PGAM4 phosphoglycerate mutase family member 4 IAGP ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia		 ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:77,967,949...77,969,638
Ensembl chr  X:77,967,949...77,969,638 		JBrowse link
G PGK1 phosphoglycerate kinase 1 IAGP ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia		 ClinVar PMID:28492532 NCBI chr  X:78,104,248...78,129,295
Ensembl chr  X:77,910,739...78,129,295 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 29102
    syndrome 13592
      primary immunodeficiency disease 4369
        combined immunodeficiency 1054
          combined T cell and B cell immunodeficiency 390
            CD40 ligand deficiency + 15
            DNA ligase IV deficiency 1
            Good syndrome 0
            Woods Black Norbury Syndrome 0
            X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 6
            immunodeficiency 14 23
            immunodeficiency 15A 2
            immunodeficiency 16 76
            immunodeficiency 23 8
            immunodeficiency 36 1
            immunodeficiency 37 2
            immunodeficiency 40 11
            immunodeficiency 46 1
            immunodeficiency 53 1
            immunodeficiency 56 2
            immunodeficiency 58 2
            immunodeficiency 60 2
            immunodeficiency 70 1
            immunodeficiency with hyper IgM type 3 2
            leukocyte adhesion deficiency + 187
            purine nucleoside phosphorylase deficiency 40
Path 2
Term Annotations click to browse term
  disease 29102
    Developmental Disease 26176
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24914
        genetic disease 24699
          monogenic disease 13652
            X-linked monogenic disease 1833
              combined T cell and B cell immunodeficiency 390
                CD40 ligand deficiency + 15
                DNA ligase IV deficiency 1
                Good syndrome 0
                Woods Black Norbury Syndrome 0
                X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 6
                immunodeficiency 14 23
                immunodeficiency 15A 2
                immunodeficiency 16 76
                immunodeficiency 23 8
                immunodeficiency 36 1
                immunodeficiency 37 2
                immunodeficiency 40 11
                immunodeficiency 46 1
                immunodeficiency 53 1
                immunodeficiency 56 2
                immunodeficiency 58 2
                immunodeficiency 60 2
                immunodeficiency 70 1
                immunodeficiency with hyper IgM type 3 2
                leukocyte adhesion deficiency + 187
                purine nucleoside phosphorylase deficiency 40
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