USP48, ubiquitin specific peptidase 48, 84196

N. diseases: 18; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 GeneticVariation disease GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 Biomarker disease CTD_human Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
CUI: C0236733
Disease: Amphetamine-Related Disorders
Amphetamine-Related Disorders 		0.300 Biomarker group CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C0236804
Disease: Amphetamine Addiction
Amphetamine Addiction 		0.300 Biomarker disease CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C0236807
Disease: Amphetamine Abuse
Amphetamine Abuse 		0.300 Biomarker disease CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0221406
Disease: Pituitary-dependent Cushing's disease
Pituitary-dependent Cushing's disease 		0.020 GeneticVariation disease BEFREE Our analyses clearly indicate that somatic mutations in the deubiquitinases are the key drivers in CD, namely USP8 (36.5%) and USP48 (13.3%). 31717455 2019
CUI: C0221406
Disease: Pituitary-dependent Cushing's disease
Pituitary-dependent Cushing's disease 		0.020 GeneticVariation disease BEFREE Identification of recurrent USP48 and BRAF mutations in Cushing's disease. 30093687 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.010 Biomarker disease BEFREE Our results highlight a role for USP48 in controlling DNA repair and suggest it as a potential target that could be therapeutically exploited for FA. 29891926 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.010 Biomarker disease BEFREE In conclusion, the present study highlights the function of USP48 in the ATRA-induced granulocytic differentiation of APL cells and provides a theoretical basis for identifying novel targets for differentiation therapy of APL. 29901102 2018
CUI: C1306214
Disease: ACTH-Secreting Pituitary Adenoma
ACTH-Secreting Pituitary Adenoma 		0.010 AlteredExpression disease BEFREE Similar to USP8 mutants, both USP48 and BRAF mutants enhance the promoter activity and transcription of the gene encoding proopiomelanocortin (POMC), which is the precursor of ACTH, providing a potential mechanism for ACTH overproduction in corticotroph adenomas. 30093687 2018
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 Biomarker disease BEFREE Our results highlight a role for USP48 in controlling DNA repair and suggest it as a potential target that could be therapeutically exploited for FA. 29891926 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE In human glioblastoma specimens, the expression levels of USP48 and Gli1 proteins are clinically relevant, and high expression of USP48 correlates with glioma malignancy. 28623188 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 Biomarker disease BEFREE In summary, our study reveals that the USP48-Gli1 regulatory axis is critical for glioma cell proliferation and glioblastoma tumorigenesis. 28623188 2017
CUI: C0017638
Disease: Glioma
Glioma 		0.010 Biomarker disease BEFREE In summary, our study reveals that the USP48-Gli1 regulatory axis is critical for glioma cell proliferation and glioblastoma tumorigenesis. 28623188 2017
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE In summary, our study reveals that the USP48-Gli1 regulatory axis is critical for glioma cell proliferation and glioblastoma tumorigenesis. 28623188 2017
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE In summary, our study reveals that the USP48-Gli1 regulatory axis is critical for glioma cell proliferation and glioblastoma tumorigenesis. 28623188 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE In summary, our study reveals that the USP48-Gli1 regulatory axis is critical for glioma cell proliferation and glioblastoma tumorigenesis. 28623188 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE In human glioblastoma specimens, the expression levels of USP48 and Gli1 proteins are clinically relevant, and high expression of USP48 correlates with glioma malignancy. 28623188 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE In summary, our study reveals that the USP48-Gli1 regulatory axis is critical for glioma cell proliferation and glioblastoma tumorigenesis. 28623188 2017