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
Accession: DOID:0060386
browse the term
Definition: A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. (DO)
Synonyms: exact_synonym: CHILBLAIN LUPUS ERYTHEMATOSUS
xref: OMIM:PS610448 ; ORDO:90280
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ATRIP
ATR interacting protein
IAGP
ClinVar Annotator: match by term: Chilblain lupus
ClinVar
PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23989343 PMID:25848017 PMID:28492532 More...
NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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ATRIP
ATR interacting protein
IAGP
ClinVar Annotator: match by term: Chilblain lupus
ClinVar
PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23989343 PMID:25848017 PMID:28492532 More...
NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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TREX1
three prime repair exonuclease 1
IAGP
ClinVar Annotator: match by term: Chilblain lupus
ClinVar
PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23989343 PMID:25848017 PMID:28492532 More...
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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ATRIP
ATR interacting protein
IAGP
ClinVar Annotator: match by term: Chilblain lupus 1
ClinVar
PMID:16845398 PMID:17660818 PMID:20131292 PMID:21270825 PMID:23602593 PMID:23881107 PMID:24183309 PMID:25582466 PMID:25604658 PMID:25741868 PMID:26938784 PMID:27943079 PMID:28492532 PMID:29453417 PMID:35307828 More...
NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
G
ATRIP
ATR interacting protein
IAGP
ClinVar Annotator: match by term: Chilblain lupus 1
ClinVar
PMID:16845398 PMID:17660818 PMID:20131292 PMID:21270825 PMID:23602593 PMID:23881107 PMID:24183309 PMID:25582466 PMID:25604658 PMID:25741868 PMID:26938784 PMID:27943079 PMID:28492532 PMID:29453417 PMID:35307828 More...
NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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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 chr20:36,890,229...36,951,893
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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
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TREX1
three prime repair exonuclease 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chilblain lupus 1
CTD ClinVar OMIM
PMID:16845398 PMID:17660818 PMID:20131292 PMID:21270825 PMID:23602593 PMID:23881107 PMID:24183309 PMID:25582466 PMID:25604658 PMID:25741868 PMID:26938784 PMID:27566796 PMID:27943079 PMID:28492532 PMID:29453417 PMID:35307828 More...
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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LOC130065805
ATAC-STARR-seq lymphoblastoid silent region 12883
IAGP
ClinVar Annotator: match by term: Chilblain lupus 2
ClinVar
PMID:25741868
NCBI chr20:36,951,203...36,951,422
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SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
IAGP EXP
ClinVar Annotator: match by term: SAMHD1-related condition CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chilblain lupus 2
OMIM ClinVar CTD
PMID:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001 PMID:33857133 More...
NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
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TLDC2
TBC/LysM-associated domain containing 2
IAGP
ClinVar Annotator: match by term: Chilblain lupus 2
ClinVar
PMID:25741868
NCBI chr20:36,876,121...36,894,235
Ensembl chr20:36,876,121...36,894,235
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