common variable immunodeficiency 10 - Ontology Report

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 10	go back to main search page
Accession:	DOID:0081152	browse the term
Definition:	A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. (DO)
Synonyms:	exact_synonym:	CVID10; DAVID; common variable immunodeficiency with central adrenal insufficiency; deficit in anterior pituitary function and variable immunodeficiency
	primary_id:	OMIM:615577
	alt_id:	DOID:9000689

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Genes (2)

common variable immunodeficiency 10

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Nfkb2

nuclear factor kappa B subunit 2

ISO

ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10

OMIM
ClinVar

PMID:9536098 PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 More...

NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213

Stim1

stromal interaction molecule 1

ISO

ClinVar Annotator: match by term: Immunodeficiency, common variable, 10

ClinVar

PMID:25741868 PMID:28492532

NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363

Term paths to the root

Path 1
Term	Annotations
disease	18976
disease of anatomical entity	18260
immune system disease	4782
autoimmune disease	2325
common variable immunodeficiency	238
common variable immunodeficiency 10	2
Path 2
Term	Annotations
disease	18976
Developmental Disease	14397
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	13406
genetic disease	13024
monogenic disease	10419
autosomal genetic disease	9577
autosomal recessive disease	6657
common variable immunodeficiency	238
common variable immunodeficiency 10	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS