Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.040 Biomarker disease BEFREE CDC91L1 (PIG-U) is a newly discovered oncogene in human bladder cancer. 15034568 2004
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
0.030 Biomarker disease BEFREE AFC: antral follicle count; BMI: body mass index; DOR: diminished ovarian reserve; E2: estradiol; FPS: follicular-phase stimulation; FSH: follicle stimulating hormone; GnRH: gonadotropin-releasing hormone; HCG: human chorionic gonadotropin; IRB: institutional review board; IVF: in vitro fertilization; LH: luteinizing hormone; LPS: luteal-phase stimulation; MII: metaphase II. 29564925 2018
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
0.030 Biomarker disease BEFREE Fragile X premutations are associated with primary ovarian insufficiency when the patient presents with amenorrhea, but the fragile X mental retardation 1 (FMR1) CGG repeat count among cycling women with low ovarian reserve (diminished ovarian reserve [DOR]) is not yet established. 22581803 2012
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
0.030 GeneticVariation disease BEFREE This was a cross-sectional survey of women with elevated follicle stimulating hormone levels with (premature ovarian failure or early menopause [POF/EM], n = 20) or without (diminished ovarian reserve [DOR], n = 20) amenorrhea.Seventy-five percent participated. 16522406 2006
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 AlteredExpression phenotype BEFREE When DOR gene expression was silenced or inhibited, the proliferation of HCC cells was inhibited, and tumor cells underwent apoptosis, the cell cycle was arrested and tumor cell invasion and migration were significantly decreased. 23903826 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 Biomarker phenotype BEFREE Furthermore, we report that the consequences of altered TP53INP2 splicing on invasion are likely mediated via alterations in Golgi complex integrity during migration on three-dimensional matrices. 19934309 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 Biomarker disease BEFREE When test results for BMP3 and NDRG4 were combined, the DOR of CRC detection was 98.36, which was higher than that for BMP3 and NDRG4 separately. 31097151 2020
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.010 AlteredExpression group BEFREE Decreased expression of TP53INP2, and increased expression of BCL2A1, IL-6, IL8 and other proinflammatory cytokines were shown in biopsies with BKV nephropathy. 31410940 2019
CUI: C0234251
Disease: Inflammatory pain
Inflammatory pain
0.010 Biomarker phenotype BEFREE Simultaneous targeting of MOR/DOR: A useful strategy for inflammatory pain modulation. 30690004 2019
CUI: C0001430
Disease: Adenoma
Adenoma
0.010 Biomarker group BEFREE Besides, NDRG4 could be also considered as a significant diagnostic marker gene in CRC (DOR: 24.37; 95%CI, 10.11-58.73) and VIM in adenoma (DOR: 15.21; 95%CI, 2.72-85.10). 30024936 2018
CUI: C0009806
Disease: Constipation
Constipation
0.010 Biomarker phenotype BEFREE TAN-452 is a peripherally acting opioid receptor antagonist with selectivity for DOR that attenuates morphine-induced side effects, such as nausea, vomiting, and constipation, without affecting pain control. 30036489 2018
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
0.010 Biomarker phenotype BEFREE TAN-452 is a peripherally acting opioid receptor antagonist with selectivity for DOR that attenuates morphine-induced side effects, such as nausea, vomiting, and constipation, without affecting pain control. 30036489 2018
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.010 AlteredExpression disease BEFREE TP53INP2 expression was required for autophagic activity in liposarcoma cells. 28131096 2017
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.010 AlteredExpression disease BEFREE TP53INP2 expression was required for autophagic activity in liposarcoma cells. 28131096 2017
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma
0.010 AlteredExpression disease BEFREE TP53INP2 expression was required for autophagic activity in liposarcoma cells. 28131096 2017
estrogen receptor-negative breast cancer
0.010 Biomarker disease BEFREE We conducted a replication study using a dataset outside of the Challenge, and found the association between TP53INP2 and ER-negative breast cancer was significant (p = 5.07x10-3). 28957356 2017
CUI: C0025202
Disease: melanoma
melanoma
0.010 AlteredExpression disease BEFREE The present study identified miR-638 as one of the most significantly overexpressed miRNAs in metastatic lesions of melanomas compared with primary melanomas. miR-638 enhanced the tumorigenic properties of melanoma cells in vitro and lung colonization in vivo. mRNA expression profiling identified new candidate genes including TP53INP2 as miR-638 targets, the majority of which are involved in p53 signalling. 25650662 2015
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia
0.010 AlteredExpression disease BEFREE We investigated whether skin cytokine and delta opioid receptor (DOR) gene expression in FMS patients differs from controls as one potential contributor to small nerve fiber sensitization. 25240423 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 Biomarker disease BEFREE On the basis of our previous reports incriminating PIG-U as an oncogene in bladder cancer and PIG-T and GPAA1 as oncogenes in breast cancer, we evaluated the expression pattern of the GPIT subunits in 19 different human cancers at both mRNA and protein levels. 18487995 2008
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 AlteredExpression group BEFREE There was also overexpression of PIG-U and GPI8 in lymphoma. 18487995 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 Biomarker disease BEFREE On the basis of our previous reports incriminating PIG-U as an oncogene in bladder cancer and PIG-T and GPAA1 as oncogenes in breast cancer, we evaluated the expression pattern of the GPIT subunits in 19 different human cancers at both mRNA and protein levels. 18487995 2008
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.010 AlteredExpression disease BEFREE There was also overexpression of PIG-U and GPI8 in lymphoma. 18487995 2008
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
0.010 AlteredExpression disease BEFREE There was also overexpression of PIG-U and GPI8 in lymphoma. 18487995 2008
CUI: C0004134
Disease: Ataxia
Ataxia
0.010 GeneticVariation phenotype BEFREE Our failure to detect causative mutations suggests that alterations in the coding region of TP53INP2 are not responsible for ataxia in this family, although we cannot rule out changes in non-coding elements of this gene. 17238154 2007
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.010 GeneticVariation phenotype BEFREE Our failure to detect causative mutations suggests that alterations in the coding region of TP53INP2 are not responsible for ataxia in this family, although we cannot rule out changes in non-coding elements of this gene. 17238154 2007