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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 103
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Accession:DOID:9005249 term browser browse the term
Synonyms:exact_synonym: CANDF2;   CARD9 IMMUNODEFICIENCY;   Familial Candidiasis 2;   IMD103;   Immunodeficiency 103, susceptibility to fungal infections
 primary_id: OMIM:212050
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Immunodeficiency 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,394,942...8,401,559
Ensembl chr 3:8,392,889...8,401,321 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,320,495...8,323,495
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Card9 caspase recruitment domain family, member 9 susceptibility ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY | ClinVar Annotator: match by term: Candidiasis, familial, 2
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19864672 PMID:21983784 More... NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363 		JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,312,404...8,320,206
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006 		JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,274,762...8,276,338
Ensembl chr 3:8,274,762...8,276,521 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      primary immunodeficiency disease 3831
        Immunodeficiency 103 35
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        sensory system disease 6388
          skin disease 3771
            Infectious Skin Diseases 364
              dermatomycosis 95
                chronic mucocutaneous candidiasis 54
                  Immunodeficiency 103 35
paths to the root