Chilblain Lupus 1 - Ontology Report

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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:	Chilblain Lupus 1	go back to main search page
Accession:	DOID:9005881	browse the term
Synonyms:	exact_synonym:	CHBL1; Chilblain lupus
	related_synonym:	chilbain lupus 1
	primary_id:	MESH:C535924
	alt_id:	OMIM:610448; RDO:0001294
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:

Rat (4) Mouse (5) Human (8) Chinchilla (4) Bonobo (4) Dog (4) Squirrel (4) Pig (4) All
Genes (5) Variants (3)

Chilblain Lupus 1

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATRIP

ATR interacting protein

IAGP

ClinVar Annotator: match by term: Chilblain lupus 1

ClinVar

PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23602593 PMID:23989343 PMID:24183309 PMID:25582466 PMID:25741868 PMID:25848017 PMID:28492532

NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645

ATRIP

ATR interacting protein

IAGP

ClinVar Annotator: match by term: Chilblain lupus 1

ClinVar

NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645

SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

EXP

CTD Direct Evidence: marker/mechanism

CTD

PMID:27566796

NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,889,773...36,951,901
Ensembl chr20:36,889,773...36,951,901

STING1

stimulator of interferon response cGAMP interactor 1

EXP

CTD Direct Evidence: marker/mechanism

CTD

PMID:27566796

NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935

TREX1

three prime repair exonuclease 1

IAGP
EXP

ClinVar Annotator: match by term: Chilblain lupus 1
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM

NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645

Term paths to the root

Path 1
Term	Annotations
disease	18966
Wounds and Injuries	861
Frostbite	6
Chilblains	6
Chilblain Lupus 1	5
Path 2
Term	Annotations
disease	18966
disease of anatomical entity	17449
Immune & Inflammatory Diseases	3525
immune system disease	2937
primary immunodeficiency disease	2281
autoimmune disease	1595
autoimmune disease of musculoskeletal system	963
lupus erythematosus	212
cutaneous lupus erythematosus	17
Chilblain lupus	6
Chilblain Lupus 1	5

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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