Disease: Chilblain lupus 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
0.700 CausalMutation CLINVAR Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. 28089741 2017
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
0.700 CausalMutation CLINVAR Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 27391121 2016
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
0.700 CausalMutation CLINVAR Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 26182405 2015
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
0.700 CausalMutation CLINVAR Heterozygous TREX1 mutations in early-onset cerebrovascular disease. 23881107 2013
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
0.700 CausalMutation CLINVAR The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 21937424 2011
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
0.700 CausalMutation CLINVAR Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. 21270825 2011
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
0.700 CausalMutation CLINVAR The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 18805785 2008
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
0.700 CausalMutation CLINVAR The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering. 17293595 2007
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
0.700 CausalMutation CLINVAR Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398 2006