Systemic onset juvenile chronic arthritis
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Both common and rare genetic variants of laccase domain-containing 1 (<i>LACC1</i>, previously C13orf31) are associated with inflammatory bowel disease, leprosy, Behcet disease, and systemic juvenile idiopathic arthritis.
|
30510070 |
2019 |
Systemic onset juvenile chronic arthritis
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
More recently, mutations in LACC1 (laccase domain-containing protein 1) have been identified as the cause of a monogenic form of systemic juvenile idiopathic arthritis, which does not itself manifest granulomatous inflammation, but the same LACC1 mutations have also been shown to cause an early-onset, familial form of a well-known granulomatous condition, Crohn's disease (CD).
|
29538758 |
2018 |
Systemic onset juvenile chronic arthritis
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Single-nucleotide variations in C13orf31 (LACC1) that encode p.C284R and p.I254V in a protein of unknown function (called 'FAMIN' here) are associated with increased risk for systemic juvenile idiopathic arthritis, leprosy and Crohn's disease.
|
27478939 |
2016 |
Systemic onset juvenile chronic arthritis
|
0.350 |
GermlineCausalMutation
|
disease |
ORPHANET |
Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.
|
25220867 |
2015 |
Systemic onset juvenile chronic arthritis
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
A monogenic form of systemic-onset juvenile idiopathic arthritis is caused by homozygous mutations in LACC1.
|
26196376 |
2015 |
Systemic onset juvenile chronic arthritis
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.
|
25220867 |
2015 |
Juvenile-Onset Still Disease
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.
|
25220867 |
2015 |
Rheumatoid Arthritis, Systemic Juvenile
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.
|
25220867 |
2015 |
Leprosy
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Both common and rare genetic variants of laccase domain-containing 1 (<i>LACC1</i>, previously C13orf31) are associated with inflammatory bowel disease, leprosy, Behcet disease, and systemic juvenile idiopathic arthritis.
|
30510070 |
2019 |
Leprosy
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Additionally, common variants of NOD2 and LACC1 have been implicated in susceptibility to leprosy, a granulomatous infection.
|
29538758 |
2018 |
Leprosy
|
0.190 |
Biomarker
|
disease |
BEFREE |
Consistently, mRNA expression levels of both HIF1A and LACC1 were upregulated in the skin lesions of individuals with leprosy and in Mycobacterium leprae-stimulated cells, indicating an active role of HIF1A and LACC1 in leprosy pathogenesis.
|
29706348 |
2018 |
Leprosy
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate whether single nucleotide polymorphisms in NOD2, C13orf31, and CCDC122 genes are associated with leprosy among the Chinese Yi population in China.
|
26235265 |
2016 |
Leprosy
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Genetic variation in the Laccase (multicopper oxidoreductase) domain-containing 1 (LACC1) gene has been shown to affect the risk of Crohn's disease, leprosy and, more recently, ulcerative colitis and juvenile idiopathic arthritis.
|
27959965 |
2016 |
Leprosy
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Single-nucleotide variations in C13orf31 (LACC1) that encode p.C284R and p.I254V in a protein of unknown function (called 'FAMIN' here) are associated with increased risk for systemic juvenile idiopathic arthritis, leprosy and Crohn's disease.
|
27478939 |
2016 |
Leprosy
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
The function of the Laccase domain-containing 1 (LACC1) gene is unknown, but genetic variation at this locus has been reported to consistently affect the risk of Crohn's disease (CD) and leprosy.
|
27098602 |
2016 |
Leprosy
|
0.190 |
Biomarker
|
disease |
BEFREE |
Association of LACC1 with Crohn's disease and leprosy has been reported and justifies investigation of its role in autoinflammatory disorders.
|
25220867 |
2015 |
Leprosy
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians.
|
25367361 |
2014 |
Leprosy
|
0.190 |
GeneticVariation
|
disease |
GWASDB |
Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.
|
22019778 |
2011 |
Leprosy
|
0.190 |
GeneticVariation
|
disease |
GWASDB |
Genomewide association study of leprosy.
|
20018961 |
2009 |
Leprosy
|
0.190 |
GeneticVariation
|
disease |
GWASCAT |
Genomewide association study of leprosy.
|
20018961 |
2009 |
Crohn Disease
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
More recently, mutations in LACC1 (laccase domain-containing protein 1) have been identified as the cause of a monogenic form of systemic juvenile idiopathic arthritis, which does not itself manifest granulomatous inflammation, but the same LACC1 mutations have also been shown to cause an early-onset, familial form of a well-known granulomatous condition, Crohn's disease (CD).
|
29538758 |
2018 |
Crohn Disease
|
0.170 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
|
28067908 |
2017 |
Crohn Disease
|
0.170 |
Biomarker
|
disease |
BEFREE |
Relative to LACC1 Ile254, cells transfected with Crohn's disease-risk LACC1 Val254 or LACC1 with mutations of the nearby histidines (249,250) have reduced PRR-induced outcomes.
|
28593945 |
2017 |
Crohn Disease
|
0.170 |
Biomarker
|
disease |
BEFREE |
Functional Analyses of the Crohn's Disease Risk Gene LACC1.
|
27959965 |
2016 |
Crohn Disease
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
Single-nucleotide variations in C13orf31 (LACC1) that encode p.C284R and p.I254V in a protein of unknown function (called 'FAMIN' here) are associated with increased risk for systemic juvenile idiopathic arthritis, leprosy and Crohn's disease.
|
27478939 |
2016 |