Glycogen Storage Disease XI - 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:	Glycogen Storage Disease XI	go back to main search page
Accession:	DOID:9003665	browse the term
Synonyms:	exact_synonym:	GSD XI; GSD11; lactate dehydrogenase A deficiency; lactate dehydrogenase deficiency type A
	primary_id:	MESH:C538133
	alt_id:	OMIM:612933

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Genes (3)

Glycogen Storage Disease XI

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gtf2h1

general transcription factor IIH subunit 1

ISO

ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A

ClinVar

PMID:28492532

NCBI chr 1:97,321,417...97,349,455
Ensembl chr 1:97,321,394...97,349,455

Hps5

HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

ISO

ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A

ClinVar

PMID:28492532

NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019

Ldha

lactate dehydrogenase A

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glycogen storage disease XI | ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A

OMIM
CTD
ClinVar

PMID:1953713 PMID:1959923 PMID:2334430 PMID:3092644 PMID:7603529 More...

NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472

Term paths to the root

Path 1
Term	Annotations
disease	21128
Nutritional and Metabolic Diseases	8237
disease of metabolism	8237
inherited metabolic disorder	6214
carbohydrate metabolic disorder	3267
glycogen metabolism disorder	264
glycogen storage disease	264
Glycogen Storage Disease XI	3
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
glycogen metabolism disorder	264
glycogen storage disease	264
Glycogen Storage Disease XI	3

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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