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 28
Accession: DOID:0111995
browse the term
Definition: A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR2 on chromosome 21q22.11. (DO)
Synonyms: exact_synonym: IFNGR2 deficiency; IMD28; MSMD due to complete IFNgammaR2 deficiency; MSMD due to complete interferon gamma receptor 2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency; immunodeficiency 28, mycobacteriosis; immunodeficiency 28, mycobacteriosis, autosomal recessive
primary_id: OMIM:614889
xref: ORDO:319547
For additional species annotation, visit the
Alliance of Genome Resources .
G
Atp5po
ATP synthase peripheral stalk subunit OSCP
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
G
Cbr3
carbonyl reductase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875
G
Cfap298
cilia and flagella associated protein 298
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
G
Chaf1b
chromatin assembly factor 1 subunit B
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
G
Cldn14
claudin 14
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
G
Clic6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
G
Cryzl1
crystallin zeta like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867
G
Dnajc28
DnaJ heat shock protein family (Hsp40) member C28
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441
G
Donson
DNA replication fork stabilization factor DONSON
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
G
Dop1b
DOP1 leucine zipper like protein B
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931
G
Dyrk1a
dual specificity tyrosine phosphorylation regulated kinase 1A
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
G
Eva1c
eva-1 homolog C
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596
G
Gart
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
G
Hlcs
holocarboxylase synthetase
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222
G
Hunk
hormonally upregulated Neu-associated kinase
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:29,641,051...29,758,392
Ensembl chr11:29,640,775...29,757,526
G
Ifnar1
interferon alpha and beta receptor subunit 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
G
Ifnar2
interferon alpha and beta receptor subunit 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
G
Ifngr2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
OMIM ClinVar
PMID:9536098 PMID:15924140 PMID:16690980 PMID:16885196 PMID:17576681 PMID:18625743 PMID:23161749 PMID:24033266 PMID:25135595 PMID:25741868 PMID:28492532 PMID:29106381 PMID:30814731 PMID:31222290 More...
NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
G
Il10rb
interleukin 10 receptor subunit beta
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
G
Itsn1
intersectin 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
G
Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
G
Kcne2
potassium voltage-gated channel subfamily E regulatory subunit 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
G
Kcnj6
potassium inwardly-rectifying channel, subfamily J, member 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:34,061,705...34,309,128
Ensembl chr11:34,061,708...34,308,758
G
LOC102556347
carbonyl reductase [NADPH] 1-like
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:32,892,640...32,895,277
Ensembl chr11:32,857,991...32,895,275
G
Mis18a
MIS18 kinetochore protein A
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062
G
Morc3
MORC family CW-type zinc finger 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:33,151,906...33,194,646
Ensembl chr11:33,152,025...33,194,646
G
Mrap
melanocortin 2 receptor accessory protein
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
G
Mrps6
mitochondrial ribosomal protein S6
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
G
Olig1
oligodendrocyte transcription factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521
G
Olig2
oligodendrocyte transcription factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
G
Paxbp1
PAX3 and PAX7 binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648
G
Pigp
phosphatidylinositol glycan anchor biosynthesis, class P
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:33,682,943...33,689,071
Ensembl chr11:33,682,948...33,689,321
G
Rcan1
regulator of calcineurin 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
G
RGD1562726
similar to Putative protein C21orf62 homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439
G
Ripply3
ripply transcriptional repressor 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:33,648,471...33,656,587
Ensembl chr11:33,648,486...33,656,584
G
Runx1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
G
Scaf4
SR-related CTD-associated factor 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153
G
Setd4
SET domain containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
G
Sim2
SIM bHLH transcription factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
G
Slc5a3
solute carrier family 5 member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
G
Smim11
small integral membrane protein 11
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
G
Sod1
superoxide dismutase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Son
SON DNA and RNA binding protein
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
G
Synj1
synaptojanin 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,192,629...30,269,277
Ensembl chr11:30,192,629...30,269,220
G
Tiam1
TIAM Rac1 associated GEF 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901
G
Tmem50b
transmembrane protein 50B
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:9536098 PMID:17576681 PMID:28492532 PMID:29106381
NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661
G
Ttc3
tetratricopeptide repeat domain 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975
G
Urb1
URB1 ribosome biogenesis homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363
G
Vps26c
VPS26 endosomal protein sorting factor C
ISO
ClinVar Annotator: match by term: Immunodeficiency 28
ClinVar
PMID:28492532
NCBI chr11:33,813,467...33,841,883
Ensembl chr11:33,792,389...33,841,447
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all