maturity-onset diabetes of the young type 11 - 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:	maturity-onset diabetes of the young type 11	go back to main search page
Accession:	DOID:0111109	browse the term
Definition:	A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. (DO)
Synonyms:	exact_synonym:	BLK-RELATED CONDITION; MODY11
	primary_id:	OMIM:613375; RDO:0009826

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Genes (2)

maturity-onset diabetes of the young type 11

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Blk

BLK proto-oncogene, Src family tyrosine kinase

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BLK-related condition | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11

OMIM
CTD
ClinVar

PMID:18204098 PMID:18414213 PMID:19667185 PMID:24023612 PMID:24033266 More...

NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031

Fam167a

family with sequence similarity 167, member A

ISO

ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11

ClinVar

PMID:19667185

NCBI chr15:37,685,221...37,715,472
Ensembl chr15:37,700,919...37,715,469

Term paths to the root

Path 1
Term	Annotations
disease	21128
disease of anatomical entity	18211
endocrine system disease	6775
diabetes mellitus	1660
maturity-onset diabetes of the young	104
maturity-onset diabetes of the young type 11	2
Path 2
Term	Annotations
disease	21128
Developmental Disease	18449
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	18309
genetic disease	18253
inherited metabolic disorder	6214
carbohydrate metabolic disorder	3267
glucose metabolism disease	2071
diabetes mellitus	1660
maturity-onset diabetes of the young	104
maturity-onset diabetes of the young type 11	2

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InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS