Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.030 GeneticVariation phenotype BEFREE ITIH3 polymorphism may confer susceptibility to psychiatric disorders by altering the expression levels of GLT8D1. 24373612 2014
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.030 GeneticVariation phenotype BEFREE Common single nucleotide polymorphisms (SNPs) in or near the inter-alpha-trypsin inhibitor heavy chain H3 (ITIH3) gene have been repeatedly associated with schizophrenia and related psychiatric disorders in genome-wide association studies. 27396837 2016
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.030 GeneticVariation phenotype BEFREE Several genome-wide association studies and case-control studies regarding psychiatric disorders have identified ITIH3 and ITIH4 single nucleotide polymorphisms (SNPs). 29992445 2018
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.100 GeneticVariation phenotype GWASDB Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. 23555315 2013
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.110 GeneticVariation disease GWASDB Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.110 GeneticVariation disease GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.110 GeneticVariation disease BEFREE We examined the association between the selected polymorphisms in two candidate genes, the arsenite methyltransferase gene (AS3MT, rs11191454) and the inter-α-trypsin inhibitors heavy chain-3 gene (ITIH3, rs2535629), and attention-deficit hyperactivity disorder (ADHD) in a Korean population. 25461954 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation disease BEFREE Therefore, this family-based association study was performed in 640 Chinese Han autism trios to investigate the association between autism and 7 SNPs with genome-wide significance in previous GWAS (rs4307059 near MSNP1AS, rs4141463 in MACROD2, rs2535629 in ITIH3, rs11191454 in AS3MT, rs1625579 in MIR137HG, rs11191580 in NT5C2, and rs1409313 in CUEDC2). 30610940 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.410 GeneticVariation disease GWASCAT Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression. 30626913 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.410 GeneticVariation disease BEFREE We detected a novel association between suicide attempt and the ITIH3/4-region in a combined group of patients with BD, SCZ and related psychosis spectrum disorders. 24461634 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.410 GeneticVariation disease GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.410 Biomarker disease PSYGENET STAB1 is located in close proximity to PBMR1 and the NEK4-ITIH1-ITIH3-ITIH4 region, which are the top findings from GWAS meta-analyses of mood disorder, and a combined BD and schizophrenia data set. 25136889 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.410 Biomarker disease PSYGENET In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7.0 × 10(-9)), ANK3 (rs10994359, P = 2.5 × 10(-8)) and the ITIH3-ITIH4 region (rs2239547, P = 7.8 × 10(-9)). 21926974 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.410 Biomarker disease PSYGENET We detected a novel association between suicide attempt and the ITIH3/4-region in a combined group of patients with BD, SCZ and related psychosis spectrum disorders. 24461634 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.410 GeneticVariation disease GWASDB Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample. 23070075 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.410 Biomarker disease PSYGENET Finally, a combined GWAS analysis of schizophrenia and bipolar disorder yielded strong association evidence for SNPs in CACNA1C and in the region of NEK4-ITIH1-ITIH3-ITIH4. 21926972 2011
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Inter-alpha-trypsin inhibitor heavy chain H3 (ITIH<sub>3</sub>) and inter-alpha-trypsin inhibitor heavy chain H4 (ITIH<sub>4</sub>) are heavy chains of protein members belonging to the ITI family, which was associated with inflammation and carcinogenesis. 31481982 2019
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.100 GeneticVariation group GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.100 GeneticVariation group GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C0009319
Disease: Colitis
Colitis 		0.010 Biomarker disease BEFREE SHAP is a novel IBD biomarker that is related to disease activity in certain types of colitis, and it may affect disease pathogenesis. 28161704 2017
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		0.010 GeneticVariation phenotype BEFREE ITIH3 SNPs rs2535629 and rs736408 and ITIH4 SNP rs3821831 were not related to depressive symptoms during pregnancy. 29992445 2018