UPP2, uridine phosphorylase 2, 151531

N. diseases: 16; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.310 Biomarker disease BEFREE The SNPs of genes such as RYR2, UPP2, and the androgen receptor gene have been shown to have sex-biasing factors in both girls and boys diagnosed with ASD. 26781567 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.310 Biomarker disease CTD_human Allowing for sex differences increases power in a GWAS of multiplex Autism families. 21151189 2012
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response. 25897834 2015
CUI: C3158111
Disease: response to SSRI
response to SSRI 		0.100 GeneticVariation phenotype GWASCAT The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response. 25897834 2015
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.100 GeneticVariation phenotype GWASCAT GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. 21658281 2011
CUI: C1720824
Disease: Sudden Cardiac Arrest
Sudden Cardiac Arrest 		0.100 GeneticVariation phenotype GWASDB GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. 21658281 2011
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME 		0.020 AlteredExpression disease BEFREE UP-II gene-expression was detected in the peripheral blood from all three patients with metastatic TCC but not from the nine patients with non-metastatic TCC nor the three healthy volunteers. 10404304 1999
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME 		0.020 Biomarker disease BEFREE Immunohistochemical staining using rabbit antisera against a synthetic peptide of UP-II and against total UPs showed UP reactivity in 39.5% (17 of 43 cases) of conventional TCCs, 12.8% (5 of 39) of bilharzial-related TCCs, and 2.7% (1 of 36) of bilharzial-related squamous cell carcinomas (SCCs). 9515818 1998
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 GeneticVariation disease BEFREE Incident self-reported diabetes cases were identified at follow-up II interview (2006-2010). 29021814 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 GeneticVariation group BEFREE Incident self-reported diabetes cases were identified at follow-up II interview (2006-2010). 29021814 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE Incident self-reported T2D cases were identified at follow-up II interview (2006-2010). 28448891 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 Biomarker disease BEFREE A second gene, uridine phosphorylase 2, with a joint P-value of 2.3E-9, has been previously linked and associated with Autism in independent samples. 21151189 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE UP II mRNA-positive cells were detected in 3 (10.3%) of 29 patients with superficial cancers (pTa-1N0M0), 4 (28.6%) of 14 patients with muscularly invasive cancers (pT2-4N0M0), 2 (40.0%) of 5 loco-regional node-positive patients (pN1-2M0), and 6 (75.0%) of 8 patients with distant metastases. 10955799 2000
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE UP II mRNA-positive cells were detected in 3 (10.3%) of 29 patients with superficial cancers (pTa-1N0M0), 4 (28.6%) of 14 patients with muscularly invasive cancers (pT2-4N0M0), 2 (40.0%) of 5 loco-regional node-positive patients (pN1-2M0), and 6 (75.0%) of 8 patients with distant metastases. 10955799 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE These results suggest that our nested reverse transcription-PCR assay for UP II is highly specific and might be used as a tumor marker for molecular staging of urothelial cancers, although the sensitivity is not so optimal. 10955799 2000
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 AlteredExpression group BEFREE UP II mRNA-positive cells were detected in 3 (10.3%) of 29 patients with superficial cancers (pTa-1N0M0), 4 (28.6%) of 14 patients with muscularly invasive cancers (pT2-4N0M0), 2 (40.0%) of 5 loco-regional node-positive patients (pN1-2M0), and 6 (75.0%) of 8 patients with distant metastases. 10955799 2000
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 Biomarker disease BEFREE Immunohistochemical staining using rabbit antisera against a synthetic peptide of UP-II and against total UPs showed UP reactivity in 39.5% (17 of 43 cases) of conventional TCCs, 12.8% (5 of 39) of bilharzial-related TCCs, and 2.7% (1 of 36) of bilharzial-related squamous cell carcinomas (SCCs). 9515818 1998
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.010 GeneticVariation disease BEFREE A survey of 50 transitional cell carcinomas (TCCs) revealed a UP-II polymorphism but no tumor-specific mutations. 9515818 1998