Gene: TIMMDC1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs2293370 in TIMMDC1 gene and Biliary cirrhosis PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

rs115511641 in TIMMDC1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs4688011 in TIMMDC1 gene and Juvenile arthritis PMID 22354554 2012 Gene expression data on 68 JIA cases and 23 local controls showed cis expression quantitative trait locus associations for C3orf1 SNP rs4688011 (P = 0.024 or P = 0.034, depending on the probe set) and JMJD1C SNPs rs6479891 and rs12411988 (P = 0.01 or P = 0.04, depending on the probe set and P = 0.008, respectively).

rs11714843 in TIMMDC1 gene and Juvenile pauciarticular chronic arthritis PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs11714843 in TIMMDC1 gene and Juvenile-Onset Still Disease PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs1131265 in TIMMDC1 gene and Lupus Erythematosus, Systemic PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

rs1131265 in TIMMDC1 gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

PMID 21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

rs11714843 in TIMMDC1 gene and Oligoarticular Juvenile Idiopathic Arthritis PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs11714843 in TIMMDC1 gene and Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs1131265 in TIMMDC1 gene and Primary biliary cirrhosis PMID 22936693 2012 Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.

PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.

PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

PMID 30643196 2019 This is the first study to demonstrate that POGLUT1 and not CD80 is the effector gene regulated by the primary functional SNP rs2293370, and that increased expression of POGLUT1 might be involved in the pathogenesis of PBC.

PMID 28062665 2017 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.

rs11714843 in TIMMDC1 gene and Rheumatoid Arthritis, Systemic Juvenile PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs11714843 in TIMMDC1 gene and Systemic onset juvenile chronic arthritis PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.