DLGAP2, DLG associated protein 2, 9228

N. diseases: 22; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 Biomarker disease BEFREE Discs-Large Associated Protein 2 (<i>DLGAP2)</i>, involved in synapse organization, neuronal signaling, and strongly implicated in autism, exhibited significant hypomethylation (p < 0.05) at 17 CpG sites in human sperm. 31451081 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.320 GeneticVariation disease BEFREE The findings of this study provide first evidence of DNA methylation levels in DLGAP2 associated with SCZ with TD in Chinese population. 30504779 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 Biomarker disease BEFREE The 8p23.3 region contains the autism candidate gene DLGAP2, which can contribute to autism when disrupted [Marshall et al. 28407363 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.320 Biomarker disease PSYGENET We resequenced the putative promoter region and all the exons of the DLGAP2 gene in 523 patients with schizophrenia and 596 non-psychotic controls from Taiwan and conducted a case-control association analysis. 24416398 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.320 GeneticVariation disease BEFREE We resequenced the putative promoter region and all the exons of the DLGAP2 gene in 523 patients with schizophrenia and 596 non-psychotic controls from Taiwan and conducted a case-control association analysis. 24416398 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 Biomarker disease CTD_human Functional impact of global rare copy number variation in autism spectrum disorders. 20531469 2010
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease GWASCAT Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy. 31095341 2020
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease GWASCAT Genome-wide association studies suggest that APOL1-environment interactions more likely trigger kidney disease in African Americans with nondiabetic nephropathy than strong APOL1-second gene interactions. 29885931 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group GWASCAT Genome-wide association studies suggest that APOL1-environment interactions more likely trigger kidney disease in African Americans with nondiabetic nephropathy than strong APOL1-second gene interactions. 29885931 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASCAT Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. 24886709 2014
CUI: C1314691
Disease: Age at menarche
Age at menarche
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of age at menarche in African-American women. 23599027 2013
CUI: C1314691
Disease: Age at menarche
Age at menarche
0.100 GeneticVariation phenotype GWASDB Genome-wide association study of age at menarche in African-American women. 23599027 2013
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.010 GeneticVariation disease BEFREE Through epigenome-wide association analysis of DNA methylation from human brain tissues, we identified a differentially methylated region, DMR-DLGAP2, associated with alcohol dependence. 31745236 2019
CUI: C0032584
Disease: polyps
polyps
0.010 Biomarker phenotype BEFREE <b>Abbreviations</b>: Ams1: α-mannosidase; Ape1: aminopeptidase I; Ape3: aminopeptidase Y; Ape4: aspartyl aminopeptidase; Atg: autophagy related; Cps1: carboxypeptidase S; CTNS: cystinosin, lysosomal cystine transporter; CTSA: cathepsin A; CTSD: cathepsin D; Cvt: cytoplasm-to-vacuole targeting; Dap2: dipeptidyl aminopeptidase B; GS-bimane: glutathione-<i>S</i>-bimane; GSH: glutathione; LDs: lipid droplets; MVB: multivesicular body; PAS: phagophore assembly site; Pep4: proteinase A; PolyP: polyphosphate; Prb1: proteinase B; Prc1: carboxypeptidase Y; V-ATPase: vacuolar-type proton-translocating ATPase; VTC: vacuolar transporter chaperone. 30422029 2019
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia
0.010 GeneticVariation disease BEFREE The findings of this study provide first evidence of DNA methylation levels in DLGAP2 associated with SCZ with TD in Chinese population. 30504779 2018
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia
0.010 GeneticVariation disease BEFREE The findings of this study provide first evidence of DNA methylation levels in DLGAP2 associated with SCZ with TD in Chinese population. 30504779 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.010 Biomarker phenotype BEFREE Furthermore, following a detailed review of the potential associations between the genes located from 8p23.2 to 8pter and their clinical significance, it was hypothesized that DLG associated protein 2, ceroid‑lipofuscinosis neuronal 8, Rho guanine nucleotide exchange factor 10 and CUB and sushi multiple domains 1 may be candidate genes for DD/ID, microcephaly and neurobehavioral disorders. 28901431 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 Biomarker disease BEFREE Furthermore, following a detailed review of the potential associations between the genes located from 8p23.2 to 8pter and their clinical significance, it was hypothesized that DLG associated protein 2, ceroid‑lipofuscinosis neuronal 8, Rho guanine nucleotide exchange factor 10 and CUB and sushi multiple domains 1 may be candidate genes for DD/ID, microcephaly and neurobehavioral disorders. 28901431 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 AlteredExpression group BEFREE We discovered that three lncRNAs (RP11-397D12.4, AC007403.1, and ERICH1-AS1) were up regulated in NSCLC, compared with cancer-free controls, with the merged area under the curve in the training and validation sets of 0.986 and 0.861. 26393913 2015
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 Biomarker disease BEFREE RP11-397D12.4, AC007403.1, and ERICH1-AS1 may be potential biomarkers for predicting the tumorigenesis of NSCLC in the future. 26393913 2015
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE RP11-397D12.4, AC007403.1, and ERICH1-AS1 may be potential biomarkers for predicting the tumorigenesis of NSCLC in the future. 26393913 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 AlteredExpression group BEFREE We discovered that three lncRNAs (RP11-397D12.4, AC007403.1, and ERICH1-AS1) were up regulated in NSCLC, compared with cancer-free controls, with the merged area under the curve in the training and validation sets of 0.986 and 0.861. 26393913 2015
CUI: C3711376
Disease: Isodicentric Chromosome 15 Syndrome
Isodicentric Chromosome 15 Syndrome
0.010 Biomarker disease BEFREE Oligonucleotide aCGH (oaCGH) showed that she had a classic inv dup del(8)(qter-> p23.1::p23.1-> p21.2) containing at least three candidate genes; MCPH1 and DLGAP2 within the 6.9-Mb terminal deletion and NEF3 within the concomitant 14.1-Mb duplication. 19793310 2009