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: 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: 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: 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: rs7657746
rs7657746
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
A 0.800 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
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: rs7657746
rs7657746
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
A 0.800 GeneticVariation GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
dbSNP: rs7657746
rs7657746
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
A 0.800 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
dbSNP: rs13119723
rs13119723
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0003873
Disease:
Rheumatoid Arthritis
A 0.800 GeneticVariation GWASDB Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
dbSNP: rs13119723
rs13119723
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C0003873
Disease:
Rheumatoid Arthritis
A 0.800 GeneticVariation GWASCAT Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
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 GWASCAT Multiple common variants for celiac disease influencing immune gene expression. 20190752 2010
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: 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: rs1051597475
rs1051597475
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C4693347
Disease:
ALKURAYA-KUCINSKAS SYNDROME
T 0.800 CausalMutation CLINVAR
dbSNP: rs1051597475
rs1051597475
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C4693347
Disease:
ALKURAYA-KUCINSKAS SYNDROME
0.800 GeneticVariation UNIPROT
dbSNP: rs1554025656
rs1554025656
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C4693347
Disease:
ALKURAYA-KUCINSKAS SYNDROME
A 0.800 CausalMutation CLINVAR
dbSNP: rs1554059454
rs1554059454
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C4693347
Disease:
ALKURAYA-KUCINSKAS SYNDROME
C 0.800 CausalMutation CLINVAR
dbSNP: rs770791100
rs770791100
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
CUI: C4693347
Disease:
ALKURAYA-KUCINSKAS SYNDROME
G 0.800 CausalMutation CLINVAR
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: 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