KIAA1109, KIAA1109, 84162

N. diseases: 86; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants. 30906834 2019
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants. 30906834 2019
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. 29290337 2018
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND Molecular autopsy in maternal-fetal medicine. 28749478 2018
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.600 GeneticVariation disease UNIPROT KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. 29290337 2018
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.600 GeneticVariation disease UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.600 CausalMutation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants. 30906834 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.140 GeneticVariation disease GWASCAT Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci. 25920553 2016
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.140 GeneticVariation disease GWASCAT Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. 24999842 2014
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.140 GeneticVariation disease GWASDB Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. 24999842 2014
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.140 GeneticVariation disease GWASCAT Multiple common variants for celiac disease influencing immune gene expression. 20190752 2010
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.140 GeneticVariation disease GWASDB Multiple common variants for celiac disease influencing immune gene expression. 20190752 2010
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.140 GeneticVariation disease BEFREE Five SNPs strongly associated with celiac disease within the KIAA1109/TENR/IL2/IL21 linkage disequilibrium block on chromosome 4q27 and one coding SNP within the IL21 gene were analyzed in a large German IBD cohort. 19455118 2009
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.140 GeneticVariation disease BEFREE In conclusion, our results support the KIAA1109/Tenr/IL2/IL21 region as a true CD susceptibility region. 18418394 2008
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.140 GeneticVariation disease GWASDB A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. 17558408 2007
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.140 GeneticVariation disease BEFREE Recently, association of celiac disease with common single-nucleotide polymorphism (SNP) variants in an extensive linkage-disequilibrium block of 480 kb containing the KIAA1109, Tenr, IL2, and IL21 genes has been demonstrated in three independent populations (rs6822844P combined=1.3 x 10(-14)). 17999365 2007
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.140 GeneticVariation disease LHGDN A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. 17558408 2007
CUI: C0004096
Disease: Asthma
Asthma 		0.120 GeneticVariation disease GWASCAT Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis. 31619474 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.120 GeneticVariation disease BEFREE However, the most recent genome-wide asthma severity association study, conducted in more than 57 000 individuals, demonstrated significant associations for 25 loci, including three not previously associated with asthma: GATA3, MUC5AC, and KIAA1109. 31090575 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.120 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.120 GeneticVariation disease BEFREE However, the most recent genome-wide asthma severity association study, conducted in more than 57 000 individuals, demonstrated significant associations for 25 loci, including three not previously associated with asthma: GATA3, MUC5AC, and KIAA1109. 30896504 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.120 GeneticVariation disease GWASCAT A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases. 29785011 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.120 GeneticVariation group BEFREE Our results support the existence of the associations found in the KIAA1109/IL2/IL21 gene region with ADs, thus confirms that the 4q27 locus may contribute to the genetic susceptibility of ADs in the Tunisian population. 25037274 2014
CUI: C0004096
Disease: Asthma
Asthma 		0.120 GeneticVariation disease GWASDB Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia. 21150878 2011