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: 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 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 GWASDB Multiple common variants for celiac disease influencing immune gene expression. 20190752 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.120 GeneticVariation disease GWASDB Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
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
CUI: C0004096
Disease: Asthma
Asthma 		0.120 GeneticVariation disease GWASDB Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. 21907864 2011
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.120 GeneticVariation group GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.110 GeneticVariation disease GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		0.100 GeneticVariation group GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.100 GeneticVariation group GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.100 GeneticVariation disease GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		0.100 GeneticVariation disease GWASDB Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci. 22521342 2012
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.100 GeneticVariation phenotype GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569 2013
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 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 Molecular autopsy in maternal-fetal medicine. 28749478 2018
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: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype 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 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 GeneticVariation disease UNIPROT KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. 29290337 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.110 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0013604
Disease: Edema
Edema 		0.100 Biomarker phenotype HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO