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: C0042167
Disease: Uveitis, Posterior
Uveitis, Posterior 		0.010 GeneticVariation disease BEFREE Our results demonstrated that CFH-rs800292 and KIAA1109-rs4505848 are associated with non-infectious intermediate and posterior uveitis. 22876110 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE Associations between FSA-NPS DI and breast cancer risk (555 incident breast cancers diagnosed between 2009 and 2015) were characterised by multivariable-adjusted Cox proportional hazard models. 28600360 2017
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		0.010 GeneticVariation disease BEFREE No significant association was found between AU and KIAA1109-rs4505848 or IL27-rs4788084 even stratified by gender. 22065918 2011
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.010 Biomarker disease BEFREE FRAXE (FMR2) is a fragile site associated with mental impairment located in Xq28, 600 kb distal to FRAXA (FMR1), the fragile X syndrome fragile site. 11462240 2001
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		0.010 GeneticVariation disease BEFREE Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). 29290337 2018
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.600 CausalMutation disease CLINVAR
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 GeneticVariation disease CLINVAR
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.100 GeneticVariation disease CLINVAR
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 GeneticVariation disease CLINVAR
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation disease CLINVAR
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		0.100 GeneticVariation group CLINVAR
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 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 Multiple common variants for celiac disease influencing immune gene expression. 20190752 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.120 GeneticVariation disease GWASCAT Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
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 GWASCAT A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases. 29785011 2018
CUI: C0004096
Disease: Asthma
Asthma 		0.120 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.110 GeneticVariation disease GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.110 GeneticVariation disease GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.110 GeneticVariation disease GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.100 GeneticVariation disease GWASCAT Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. 25574825 2015
CUI: C0013595
Disease: Eczema
Eczema 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.100 GeneticVariation group GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015