UBAP1, ubiquitin associated protein 1, 51271

N. diseases: 29; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.340 GeneticVariation disease BEFREE Here we report the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1 (ubiquitin-associated protein 1). 30929741 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.340 GeneticVariation disease BEFREE We identified three novel heterozygous loss of function mutations (c.425_426delAG, c.312delC, and c.535G>T) in the UBAP1 gene as the genetic cause of a new type of HSP (SPG80). 31515522 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.340 GeneticVariation disease BEFREE We also identified two UBAP1 frameshift mutations, c.324_325delCA (p.H108Qfs*10) and c.425_426delAG (p.K143Sfs*15), in two unrelated families from an additional 38 Chinese pedigrees with autosomal dominant hereditary spastic paraplegias and lacking mutations in known causative genes. 31203368 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.340 GeneticVariation disease BEFREE Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. 31696996 2020
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.020 GeneticVariation disease BEFREE Here we report the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1 (ubiquitin-associated protein 1). 30929741 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.020 GeneticVariation disease BEFREE We identified three novel heterozygous loss of function mutations (c.425_426delAG, c.312delC, and c.535G>T) in the UBAP1 gene as the genetic cause of a new type of HSP (SPG80). 31515522 2019
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.020 GeneticVariation disease BEFREE To investigate the expression of ubiquitin in monocytes and lymphocytes isolated from patients at different stages of CAD, 120 patients with CAD (40 with acute myocardial infarction [AMI], 40 with unstable angina pectoris [UAP] and 40 with stable angina pectoris [SAP]) were selected; 40 patients with normal coronary arteries served as controls. 19094431 2009
CUI: C0002965
Disease: Angina, Unstable
Angina, Unstable 		0.010 GeneticVariation disease BEFREE To investigate the expression of ubiquitin in monocytes and lymphocytes isolated from patients at different stages of CAD, 120 patients with CAD (40 with acute myocardial infarction [AMI], 40 with unstable angina pectoris [UAP] and 40 with stable angina pectoris [SAP]) were selected; 40 patients with normal coronary arteries served as controls. 19094431 2009
CUI: C0340288
Disease: Stable angina
Stable angina 		0.010 GeneticVariation disease BEFREE To investigate the expression of ubiquitin in monocytes and lymphocytes isolated from patients at different stages of CAD, 120 patients with CAD (40 with acute myocardial infarction [AMI], 40 with unstable angina pectoris [UAP] and 40 with stable angina pectoris [SAP]) were selected; 40 patients with normal coronary arteries served as controls. 19094431 2009
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 GeneticVariation disease BEFREE Serum MMP-9 and CRP levels were significantly higher in the ACS group compared with controls (48.55 ± 14.22 versus 23.14 ± 0.62 ng/ml; 4.88 ± 1.76 versus 1.26 ± 0.19 ng/ml, respectively), and significantly higher in the AMI compared with the UAP subgroup (58.13 ± 7.24 versus 31.77 ± 3.61 ng/ml; 5.80 ± 1.46 versus 3.27 ± 0.83 ng/ml, respectively). 24709882 2014
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.010 GeneticVariation disease BEFREE Our study provides genetic and biochemical evidence that mutations in UBAP1 can cause pure autosomal dominant spastic paraplegia. 31203368 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.340 Biomarker disease GENOMICS_ENGLAND Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. 30929741 2019
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE BRD3 and UBAP1 are both involved in NPC carcinogenesis as confirmed through our previous studies and PTEN is a crucial tumor suppressor in many tumor types. 20053927 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Isolation and characterization of a novel cDNA, UBAP1, derived from the tumor suppressor locus in human chromosome 9p21-22. 11599797 2001
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.020 Biomarker disease BEFREE Patients with ACS were randomly assigned to the ACS group (subdivided into unstable angina pectoris [UAP] and acute myocardial infarction [AMI]). 24709882 2014
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.020 Biomarker disease BEFREE BRD3 and UBAP1 are both involved in NPC carcinogenesis as confirmed through our previous studies and PTEN is a crucial tumor suppressor in many tumor types. 20053927 2010
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 Biomarker group BEFREE Moreover, the NF-kappaB system interdigitates with other intracellular systems, eg, kinases, ubiquitin-associated protein degradation, that are critical to the normal function of cells, involved in homeostasis and inflammation, in autoimmune diseases and malignancy. 16891930 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Moreover, the NF-kappaB system interdigitates with other intracellular systems, eg, kinases, ubiquitin-associated protein degradation, that are critical to the normal function of cells, involved in homeostasis and inflammation, in autoimmune diseases and malignancy. 16891930 2006