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immunodeficiency 23 - Ontology Report - Rat Genome Database

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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:immunodeficiency 23
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Accession:DOID:0111953 term browser browse the term
Definition:A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. (DO)
Synonyms:exact_synonym: CID due to PGM3 deficiency;   IMD23;   IVMS;   Immunodeficiency-Vasculitis-Myoclonus Syndrome;   PGM3-CDG;   PGM3-related congenital disorder of glycosylation;   combined immunodeficiency due to PGM3 deficiency;   immunodeficiency with hyper IgE and cognitive impairment
 primary_id: MIM:615816
 xref: GARD:4331;   NCI:C126339;   ORDO:443811

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show annotations for term's descendants           Sort by:
immunodeficiency 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More... NCBI chrNW_004624799:11,423,881...11,521,779
Ensembl chrNW_004624799:11,424,087...11,522,152 		JBrowse link
G G DOP1A DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More... NCBI chr13:7,739,401...7,845,309
Ensembl chr13:7,770,658...7,845,005 		JBrowse link
G P DOP1A DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More... NCBI chr 1:83,029,817...83,137,441
Ensembl chr 1:83,026,514...83,137,426 		JBrowse link
G S Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More... NCBI chrNW_004936510:7,609,941...7,715,013
Ensembl chrNW_004936510:7,607,841...7,715,050 		JBrowse link
G D DOP1A DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More... NCBI chr12:43,477,738...43,585,482
Ensembl chr12:43,478,637...43,585,745 		JBrowse link
G B DOP1A DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More... NCBI chr 6:80,964,118...81,065,351
Ensembl chr 6:84,238,657...84,339,687 		JBrowse link
G C Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More... NCBI chrNW_004955411:10,836,060...10,903,650
Ensembl chrNW_004955411:10,838,271...10,905,256 		JBrowse link
G R Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More... NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353 		JBrowse link
G M Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More... NCBI chr 9:86,349,194...86,436,683
Ensembl chr 9:86,349,207...86,437,976 		JBrowse link
G H DOP1A DOP1 leucine zipper like protein A IAGP ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | 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 N Me1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chrNW_004624799:11,166,398...11,382,662 JBrowse link
G G ME1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr13:7,889,211...8,112,793
Ensembl chr13:7,887,984...8,112,533 		JBrowse link
G P ME1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr 1:82,799,878...82,989,895
Ensembl chr 1:82,799,684...82,991,085 		JBrowse link
G S Me1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chrNW_004936510:7,425,983...7,571,090
Ensembl chrNW_004936510:7,426,347...7,571,553 		JBrowse link
G D ME1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr12:43,623,413...43,793,590
Ensembl chr12:43,624,945...43,828,775 		JBrowse link
G B ME1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr 6:81,107,569...81,320,050
Ensembl chr 6:84,382,732...84,595,701 		JBrowse link
G C Me1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chrNW_004955411:10,938,580...11,084,171
Ensembl chrNW_004955411:10,938,944...11,065,085 		JBrowse link
G R Me1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr 8:96,429,057...96,540,244
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G M Me1 malic enzyme 1, NADP(+)-dependent, cytosolic ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr 9:86,463,416...86,577,967
Ensembl chr 9:86,463,424...86,578,006 		JBrowse link
G H ME1 malic enzyme 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr 6:83,210,402...83,431,051
Ensembl chr 6:83,210,402...83,431,051 		JBrowse link
G N Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chrNW_004624799:11,395,465...11,423,878
Ensembl chrNW_004624799:11,395,615...11,423,876 		JBrowse link
G G PGM3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr13:7,841,724...7,871,013
Ensembl chr13:7,844,765...7,871,002 		JBrowse link
G P PGM3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr 1:83,003,622...83,029,392
Ensembl chr 1:83,003,604...83,029,897 		JBrowse link
G S Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chrNW_004936510:7,586,817...7,622,586
Ensembl chrNW_004936510:7,586,837...7,609,267 		JBrowse link
G D PGM3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777 		JBrowse link
G B PGM3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr 6:81,062,356...81,090,215
Ensembl chr 6:84,336,092...84,364,515 		JBrowse link
G C Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chrNW_004955411:10,904,022...10,925,613
Ensembl chrNW_004955411:10,904,022...10,924,216 		JBrowse link
G R Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022 		JBrowse link
G M Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr 9:86,423,997...86,453,927
Ensembl chr 9:86,436,430...86,453,895 		JBrowse link
G H PGM3 phosphoglucomutase 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | 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 N Prss35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chrNW_004624799:11,081,734...11,092,738
Ensembl chrNW_004624799:11,082,893...11,084,134 		JBrowse link
G G PRSS35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr13:8,188,073...8,201,399
Ensembl chr13:8,199,146...8,200,384 		JBrowse link
G P PRSS35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 1:82,714,880...82,734,883
Ensembl chr 1:82,714,884...82,734,884 		JBrowse link
G S Prss35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chrNW_004936510:7,355,622...7,367,139
Ensembl chrNW_004936510:7,355,705...7,427,101 		JBrowse link
G D PRSS35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr12:43,892,492...43,907,050
Ensembl chr12:43,891,652...43,905,441 		JBrowse link
G B PRSS35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 6:81,401,423...81,414,559
Ensembl chr 6:84,687,603...84,688,844 		JBrowse link
G C Prss35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chrNW_004955411:11,163,543...11,164,689 JBrowse link
G R Prss35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:96,594,460...96,610,992
Ensembl chr 8:87,714,966...87,731,009 		JBrowse link
G M Prss35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 9:86,625,291...86,640,496
Ensembl chr 9:86,625,702...86,640,496 		JBrowse link
G H 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 N Rwdd2a RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chrNW_004624799:11,392,314...11,395,469
Ensembl chrNW_004624799:11,392,314...11,394,547 		JBrowse link
G G RWDD2A RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr13:7,871,043...7,874,281
Ensembl chr13:7,871,095...7,878,074 		JBrowse link
G P RWDD2A RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr 1:82,997,984...83,003,583
Ensembl chr 1:82,997,993...83,003,528 		JBrowse link
G S Rwdd2a RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chrNW_004936510:7,583,575...7,586,793
Ensembl chrNW_004936510:7,583,179...7,586,798 		JBrowse link
G D RWDD2A RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr12:43,611,589...43,614,843
Ensembl chr12:43,611,670...43,614,603 		JBrowse link
G B RWDD2A RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr 6:81,090,238...81,095,834
Ensembl chr 6:84,364,540...84,370,145 		JBrowse link
G C Rwdd2a RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chrNW_004955411:10,925,958...10,929,340
Ensembl chrNW_004955411:10,925,949...10,929,340 		JBrowse link
G R Rwdd2a RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr 8:87,536,153...87,539,301
Ensembl chr 8:87,536,176...87,539,300 		JBrowse link
G M Rwdd2a RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr 9:86,454,041...86,456,952
Ensembl chr 9:86,454,044...86,456,952 		JBrowse link
G H RWDD2A RWD domain containing 2A IAGP ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr 6:83,193,357...83,198,935
Ensembl chr 6:83,193,357...83,198,935 		JBrowse link
G N Snap91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chrNW_004624799:10,913,834...11,060,185
Ensembl chrNW_004624799:10,915,477...11,060,312 		JBrowse link
G G SNAP91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr13:8,221,601...8,374,205 JBrowse link
G P SNAP91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 1:82,540,998...82,698,652
Ensembl chr 1:82,541,018...82,698,633 		JBrowse link
G S Snap91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chrNW_004936510:7,222,200...7,345,138
Ensembl chrNW_004936510:7,223,757...7,343,742 		JBrowse link
G D SNAP91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr12:43,919,925...44,058,315
Ensembl chr12:43,919,925...44,058,616 		JBrowse link
G B SNAP91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 6:81,441,792...81,600,505
Ensembl chr 6:84,720,850...84,874,407 		JBrowse link
G C Snap91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chrNW_004955411:11,175,587...11,301,145
Ensembl chrNW_004955411:11,175,525...11,300,950 		JBrowse link
G R Snap91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:96,618,039...96,732,763
Ensembl chr 8:87,738,824...87,852,367 		JBrowse link
G M Snap91 synaptosomal-associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 9:86,647,976...86,762,766
Ensembl chr 9:86,647,976...86,762,707 		JBrowse link
G H 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 N Tpbg trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chrNW_004624799:12,226,350...12,325,178
Ensembl chrNW_004624799:12,226,350...12,230,701 		JBrowse link
G G TPBG trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr13:7,047,658...7,051,390
Ensembl chr13:7,049,415...7,050,680 		JBrowse link
G P TPBG trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 1:83,847,809...83,851,326
Ensembl chr 1:83,847,819...83,850,881 		JBrowse link
G S Tpbg trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chrNW_004936510:8,274,760...8,278,955
Ensembl chrNW_004936510:8,275,660...8,278,367 		JBrowse link
G D TPBG trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr12:42,872,289...42,878,071
Ensembl chr12:42,871,239...42,875,151 		JBrowse link
G B TPBG trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 6:80,265,172...80,273,022
Ensembl chr 6:83,530,571...83,531,915 		JBrowse link
G C Tpbg trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chrNW_004955411:10,203,144...10,206,711 JBrowse link
G R Tpbg trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:95,673,993...95,677,364
Ensembl chr 8:86,793,749...86,797,741 		JBrowse link
G M Tpbg trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 9:85,724,433...85,729,110
Ensembl chr 9:85,724,433...85,729,093 		JBrowse link
G H 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 N Ube3d ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chrNW_004624799:11,523,477...11,702,781
Ensembl chrNW_004624799:11,523,473...11,703,079 		JBrowse link
G G UBE3D ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr13:7,558,463...7,737,630
Ensembl chr13:7,558,321...7,737,485 		JBrowse link
G P UBE3D ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 1:83,140,479...83,295,865
Ensembl chr 1:83,140,635...83,295,785 		JBrowse link
G S Ube3d ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chrNW_004936510:7,718,552...7,862,946
Ensembl chrNW_004936510:7,718,535...7,862,998 		JBrowse link
G D UBE3D ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr12:43,264,956...43,475,583
Ensembl chr12:43,282,372...43,476,086 		JBrowse link
G B UBE3D ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 6:80,729,751...80,962,322
Ensembl chr 6:84,062,079...84,236,860 		JBrowse link
G C Ube3d ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chrNW_004955411:10,642,102...10,797,612
Ensembl chrNW_004955411:10,642,047...10,797,612 		JBrowse link
G R Ube3d ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:96,125,609...96,293,122
Ensembl chr 8:87,245,589...87,413,057 		JBrowse link
G M Ube3d ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 9:86,189,364...86,347,003
Ensembl chr 9:86,189,359...86,347,003 		JBrowse link
G H 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      primary immunodeficiency disease 53864
        combined immunodeficiency 9468
          combined T cell and B cell immunodeficiency 3353
            immunodeficiency 23 80
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal recessive disease 73856
                immunodeficiency 23 80
paths to the root