USP7, ubiquitin specific peptidase 7, 7874

N. diseases: 153; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype CLINVAR
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation phenotype CLINVAR
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone
0.100 GeneticVariation phenotype CLINVAR
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 GeneticVariation disease BEFREE Functional analyses suggested this T-ALL risk allele is located in a putative cis-regulatory DNA element with negative effects on USP7 transcription. 30938820 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 AlteredExpression group BEFREE In addition, upregulation of MLL5 expression was correlated with increased expression of OGT and USP7 in human primary cervical adenocarcinomas. 26678539 2015
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 Biomarker group LHGDN Expression and functional analyses of mHAUSP regulating apoptosis of cervical adenocarcinoma cells. 15942648 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 AlteredExpression group BEFREE Concerning tumour histology, HAUSP mRNA expression was significantly lower in adenocarcinomas than in squamous cell carcinomas (p = 0.0038), while the frequency of p53 mutation was significantly higher in squamous cell carcinomas than in adenocarcinomas (p = 0.0461). 16450335 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 Biomarker group BEFREE Then, the prognostic role of USP7 was analyzed in 110 NSCLC samples (excluding the adenocarcinoma). 25519684 2015
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.010 Biomarker disease BEFREE Finally, the Wnt-activating role of USP7 is specific to APC mutations; thus, it can be used as a tumor-specific therapeutic target for most CRCs. 29045831 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.010 GeneticVariation disease BEFREE Functional analyses suggested this T-ALL risk allele is located in a putative cis-regulatory DNA element with negative effects on USP7 transcription. 30938820 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 AlteredExpression disease BEFREE Stabilization of LSD1 by deubiquitinating enzyme USP7 promotes glioblastoma cell tumorigenesis and metastasis through suppression of the p53 signaling pathway. 27632941 2016
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
0.010 Biomarker disease BEFREE Taken together, our findings suggest that Usp7 is important for MB cell proliferation and metastasis by activating Shh pathway, and is a putative therapeutic target for MBs. 28137592 2017
CUI: C0003467
Disease: Anxiety
Anxiety
0.100 GeneticVariation disease CLINVAR
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes
0.010 Biomarker disease BEFREE USP7 Is a Tumor-Specific WNT Activator for APC-Mutated Colorectal Cancer by Mediating β-Catenin Deubiquitination. 29045831 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.020 GeneticVariation disease BEFREE Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), seizures, and hypogonadism. 30679821 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.020 GeneticVariation disease BEFREE Importantly, we identify de novo heterozygous loss-of-function mutations of USP7 in individuals with a neurodevelopmental disorder, featuring intellectual disability and autism spectrum disorder. 26365382 2015
CUI: C4025212
Disease: Autonomic bladder dysfunction
Autonomic bladder dysfunction
0.100 GeneticVariation disease CLINVAR
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.310 Biomarker disease BEFREE In high grade UBC the identification of two clusters of patients based on CCDC6 and USP7 expession can possibly indicate the use of PARP-inhibitor drugs, in combination with USP7 inhibitor in addition to the DNA damage inducer RRx-001, that also acts as an immunomodulatory agent, offering novel therapeutic strategy for personalized medicine in bladder cancer patients. 30786932 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.310 Biomarker disease CTD_human Identification of novel gene targets and putative regulators of arsenic-associated DNA methylation in human urothelial cells and bladder cancer. 26039340 2015
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 AlteredExpression disease BEFREE USP7 was overexpressed in breast carcinomas, and the level of expression positively correlated with expression of PHF8 and cyclin A2 and with the histological grade of breast cancer. 27183383 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE Accordingly, depletion of USP7 impaired the engagement of the MRN-MDC1 complex and the consequent recruitment of the downstream factors p53-binding protein 1 (53BP1) and breast cancer protein 1 (BRCA1) at DNA lesions. 30179224 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE Correction: DUB3 and USP7 de-ubiquitinating enzymes control replication inhibitor Geminin: molecular characterization and associations with breast cancer. 31068665 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE DUB3 and USP7 de-ubiquitinating enzymes control replication inhibitor Geminin: molecular characterization and associations with breast cancer. 28288134 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE DUB3 and USP7 de-ubiquitinating enzymes control replication inhibitor Geminin: molecular characterization and associations with breast cancer. 28650472 2017