Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.320 GeneticVariation disease BEFREE We performed array-CGH to look for copy number variants between five pairs of monozygotic twins discordant for bipolar disorder or schizophrenia. 23507357 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.320 Biomarker disease BEFREE We suggest that CGH microarray should be performed in cases with intractable epilepsy or schizophrenia, with or without mental retardation. 21145272 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 GeneticVariation disease BEFREE In high-risk patients, CGH+SNP microarray analysis of primary neuroblastoma identifies SRCIN1 as frequently altered by hemizygous deletion, copy-neutral loss of heterozygosity, or disruption. 31285546 2020
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.100 GeneticVariation disease BEFREE In high-risk patients, CGH+SNP microarray analysis of primary neuroblastoma identifies SRCIN1 as frequently altered by hemizygous deletion, copy-neutral loss of heterozygosity, or disruption. 31285546 2020
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.100 GeneticVariation disease BEFREE In high-risk patients, CGH+SNP microarray analysis of primary neuroblastoma identifies SRCIN1 as frequently altered by hemizygous deletion, copy-neutral loss of heterozygosity, or disruption. 31285546 2020
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE The most frequent a-CGH abnormalities were detected in cases of congenital heart diseases (CDHs), multiple malformations and central nervous system (CNS) malformations. 30638470 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Only 10 CGH array assays were contributive and concluded in complex chromosomal patterns as hallmarks of malignancy in 5 melanomas, single isolated imbalances in 3 nevi, and no chromosomal gain or loss in 2 nevi. 28362709 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Therefore, a Gaussian pdf is not adequate to approximate the noise in array CGH data and hence introduces wrong detections of chromosomal aberrations and leads misunderstanding on disease pathogenesis. 28692986 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Patients with atypical values of HCG and/or PAPP-A are at higher risk of chromosomal abnormality and vascular complications of pregnancy. 31779618 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE SNP array, array CGH and FISH were useful for the complete characterization of the chromosomal aberrations, for the detection of microdeletions in patients with normal karyotype but with strong clinical suspicious of chromosomal alteration, and for a better establishment of genotype-phenotype correlation. 31730496 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.100 Biomarker phenotype BEFREE Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan. 30581099 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.100 GeneticVariation phenotype BEFREE Using array CGH, 262 patients with deletions and 215 with duplications were identified and tested for their association with four phenotypes (developmental delay, dysmorphic features, autism group of disorders, and epilepsy/seizures). 30542208 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 GeneticVariation disease BEFREE Using array CGH, 262 patients with deletions and 215 with duplications were identified and tested for their association with four phenotypes (developmental delay, dysmorphic features, autism group of disorders, and epilepsy/seizures). 30542208 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 Biomarker disease BEFREE Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan. 30581099 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE Only 10 CGH array assays were contributive and concluded in complex chromosomal patterns as hallmarks of malignancy in 5 melanomas, single isolated imbalances in 3 nevi, and no chromosomal gain or loss in 2 nevi. 28362709 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 Biomarker group BEFREE Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan. 30581099 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25). 27157524 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation group BEFREE Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies. 29523172 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 AlteredExpression group BEFREE The patient's thyroid function normalised with treatment of the cancer as the beta HCG levels declined. 29884717 2018
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Genetic screening for chromosomopathy is performed in the first trimester of pregnancy by determining fetal nuchal translucency (NT), and the pregnancy associated plasma protein-A (PAPP-A) and free human chorionic gonadotropin (free-beta HCG) biomarkers in maternal serum. 30581343 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Of these 19 patients, 17 did not have elevated CSF HCG-β levels or express HCG-β in the tumor tissue. 28819802 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Circulating tumor markers (β-subunit of human chorionic gonadotropin (β-HCG), alpha-Fetoprotein (AFP), and Lactate Dehydrogenase (LDH)) are frequently used for monitoring disease recurrence in TGCT patients, though they lack diagnostic sensitivity and specificity. 30321995 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The aim of this study was to define the pattern of numerical chromosomal alterations in tumor samples taken from 20 patients with pcAECyTCL at the time of diagnosis by means of array-comparative genomic hybridization (a-CGH). a-CGH detected numerous genomic aberrations in all the patients and, putting these together as a whole, they affected all the chromosomes. 30307677 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 Biomarker disease BEFREE Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25). 27157524 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 AlteredExpression group BEFREE The patient's thyroid function normalised with treatment of the cancer as the beta HCG levels declined. 29884717 2018