KIAA1109, KIAA1109, 84162

N. diseases: 86; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1051597475
rs1051597475
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C4693347
Disease:
ALKURAYA-KUCINSKAS SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs13151961
rs13151961
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0007570
Disease:
Celiac Disease 		0.800 GeneticVariation GWASDB Multiple common variants for celiac disease influencing immune gene expression. 20190752 2010
dbSNP: rs13151961
rs13151961
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0007570
Disease:
Celiac Disease 		0.800 GeneticVariation GWASDB A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. 17558408 2007
dbSNP: rs13151961
rs13151961
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0007570
Disease:
Celiac Disease 		0.800 GeneticVariation GWASDB Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. 24999842 2014
dbSNP: rs13151961
rs13151961
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0007570
Disease:
Celiac Disease 		0.800 GeneticVariation GWASCAT Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. 24999842 2014
dbSNP: rs13151961
rs13151961
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0007570
Disease:
Celiac Disease 		0.800 GeneticVariation GWASCAT Multiple common variants for celiac disease influencing immune gene expression. 20190752 2010
dbSNP: rs1554025656
rs1554025656
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C4693347
Disease:
ALKURAYA-KUCINSKAS SYNDROME 		0.800 GeneticVariation UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
dbSNP: rs1554025656
rs1554025656
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C4693347
Disease:
ALKURAYA-KUCINSKAS SYNDROME 		0.800 GeneticVariation UNIPROT KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. 29290337 2018
dbSNP: rs1554059454
rs1554059454
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C4693347
Disease:
ALKURAYA-KUCINSKAS SYNDROME 		0.800 GeneticVariation UNIPROT KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. 29290337 2018
dbSNP: rs1554059454
rs1554059454
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C4693347
Disease:
ALKURAYA-KUCINSKAS SYNDROME 		0.800 GeneticVariation UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
dbSNP: rs4505848
rs4505848
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.800 GeneticVariation GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
dbSNP: rs4505848
rs4505848
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.800 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
dbSNP: rs770791100
rs770791100
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C4693347
Disease:
ALKURAYA-KUCINSKAS SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs13119723
rs13119723
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0566602
Disease:
Primary sclerosing cholangitis 		0.710 GeneticVariation GWASDB Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci. 22521342 2012
dbSNP: rs13119723
rs13119723
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0566602
Disease:
Primary sclerosing cholangitis 		0.710 GeneticVariation BEFREE The minor alleles of all four markers were associated with a decreased susceptibility to PSC (rs13151961: p = 0.013, odds ratio (OR) 0.34; rs13119723: p = 0.023, OR 0.40; rs6822844: p = 0.031, OR 0.41; rs6840978: p = 0.043, OR 0.46). 21304239 2011
dbSNP: rs13119723
rs13119723
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0007570
Disease:
Celiac Disease 		0.710 GeneticVariation GWASDB A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. 17558408 2007
dbSNP: rs13119723
rs13119723
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0007570
Disease:
Celiac Disease 		0.710 GeneticVariation BEFREE We could confirm significant association between the polymorphisms rs13119723 A>G and rs6822844 G>T located in the KIAA1109/Tenr/IL2/IL21 region and CD (P-value 0.001 and 0.002, respectively). 18418394 2008
dbSNP: rs13151961
rs13151961
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0004364
Disease:
Autoimmune Diseases 		0.710 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
dbSNP: rs13151961
rs13151961
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0004364
Disease:
Autoimmune Diseases 		0.710 GeneticVariation BEFREE We genotyped six variants previously associated with autoimmune disease (namely rs13151961, rs13119723, rs17388568, rs3136534, rs6822844 and rs6840978) and one functional IL-2 promoter variant (rs2069762) for possible association with prostate cancer risk using the Australian Risk Factors for Prostate Cancer case-control Study. 20184734 2010
dbSNP: rs11734090
rs11734090
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0007570
Disease:
Celiac Disease 		0.700 GeneticVariation GWASDB Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. 24999842 2014
dbSNP: rs11938795
rs11938795
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0007570
Disease:
Celiac Disease 		0.700 GeneticVariation GWASDB Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. 24999842 2014
dbSNP: rs1263871665
rs1263871665
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C4693347
Disease:
ALKURAYA-KUCINSKAS SYNDROME 		0.700 GeneticVariation UNIPROT
dbSNP: rs13119723
rs13119723
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0004364
Disease:
Autoimmune Diseases 		0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
dbSNP: rs13119723
rs13119723
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0021053
Disease:
Immune System Diseases 		0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
dbSNP: rs13151961
rs13151961
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0021053
Disease:
Immune System Diseases 		0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011