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
Accession: DOID:9005249
browse the term
Synonyms: exact_synonym: CANDF2; CARD9 IMMUNODEFICIENCY; Familial Candidiasis 2; IMD103; Immunodeficiency 103, susceptibility to fungal infections
primary_id: OMIM:212050
G
Card9
caspase recruitment domain family, member 9
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
OMIM CTD ClinVar
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 PMID:21983784 PMID:22730530 PMID:23335372 PMID:24033266 PMID:24068945 PMID:24131138 PMID:24231284 PMID:24704721 PMID:25702837 PMID:25731871 PMID:25741868 PMID:25933095 PMID:26038974 PMID:26521038 PMID:26679537 PMID:26961233 PMID:27490946 PMID:27777981 PMID:28252032 PMID:28492532 PMID:28842327 PMID:29080677 PMID:29307770 PMID:29890237 PMID:30136218 PMID:30429846 PMID:30537277 PMID:30809743 PMID:30837984 PMID:31102464 PMID:31414217 PMID:31469433 PMID:32888943 PMID:33414972 PMID:33558980 PMID:33872781 PMID:34234782 PMID:35628702 PMID:35727133 More...
NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
G
Entr1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
G
Inpp5e
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
G
Pmpca
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
G
Snapc4
small nuclear RNA activating complex, polypeptide 4
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all