Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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