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: common variable immunodeficiency 7
Accession: DOID:0081150
browse the term
Definition: A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32. (DO)
Synonyms: exact_synonym: CVID7
broad_synonym: CR2-RELATED CONDITION
primary_id: OMIM:614699
alt_id: DOID:9008846
G
C13h1orf116
similar to human chromosome 1 open reading frame 116
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,187,442...42,201,432
Ensembl chr13:42,188,609...42,201,426
G
C4bpa
complement component 4 binding protein, alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205
G
C4bpb
complement component 4 binding protein, beta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,120,798...42,131,515
Ensembl chr13:42,120,798...42,131,817
G
Cd34
CD34 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,480,313...106,500,844
Ensembl chr13:106,480,043...106,499,832
G
Cd46
CD46 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
G
Cd55
CD55 molecule (Cromer blood group)
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
G
Cr1l
complement C3b/C4b receptor 1 like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,606,952...106,660,442
Ensembl chr13:106,574,858...106,660,445
G
Cr2
complement C3d receptor 2
susceptibility
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 PMID:25741868 PMID:26193622 PMID:26325596 PMID:28492532 PMID:28499783 PMID:29148534 PMID:29867916 PMID:30075290 PMID:33046446 PMID:34426522 More...
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
G
Fcamr
Fc alpha and mu receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,273,891...42,288,002
Ensembl chr13:42,273,628...42,287,113
G
Fcmr
Fc mu receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,337,363...42,351,706
Ensembl chr13:42,337,414...42,351,653
G
Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
G
Il20
interleukin 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
G
Il24
interleukin 24
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487
G
Pfkfb2
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,147,473...42,174,699
Ensembl chr13:42,147,478...42,174,699
G
Pigr
polymeric immunoglobulin receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,298,905...42,326,877
Ensembl chr13:42,298,914...42,326,875
G
Plxna2
plexin A2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,163,103...106,358,979
Ensembl chr13:106,163,103...106,358,979
G
Yod1
YOD1 deubiquitinase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,175,047...42,181,661
Ensembl chr13:42,174,820...42,177,205
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all