Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854882
Disease: Absent speech
Absent speech
0.100 Biomarker phenotype HPO
CUI: C0267446
Disease: Acute gastroenteritis
Acute gastroenteritis
0.010 Biomarker disease BEFREE Noroviruses are important causes of acute gastroenteritis and are classified into six genogroups with GI, GII and GIV containing human pathogens. 26248055 2015
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 GeneticVariation group BEFREE The AA genotype and A allele carriers of the APE gene were more frequent in the transitional epithelial carcinoma group than in the adenocarcinoma group. 19414392 2009
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma
0.010 Biomarker disease BEFREE We examined the role of APE/ref1 in pediatric embryonal and alveolar rhabdomyosarcomas (ARMS). 11846302 2001
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.020 AlteredExpression disease BEFREE Immunoblotting showed that APE/Ref-1 protein levels are increased in selectively vulnerable central nervous system (CNS) regions in individuals with ALS compared to age-matched controls. 12230304 2002
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.020 GeneticVariation disease BEFREE We have identified missense mutations in the APE gene coding for a multifunctional DNA repair enzyme, AP endonuclease in eight of 11 patients with amyotrophic lateral sclerosis (ALS) and familial ALS. 9507962 1998
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.020 Biomarker disease BEFREE Clinico-pathological analysis reveals 83% of high-grade astrocytoma (GIII + GIV) and 30% of low-grade (GII) tissue samples which were detected with pDok2 expression. 27975172 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.020 Biomarker disease BEFREE The expression of miR-124-3p and miR-128-1 decreased in astrocytomas than in normal brain tissue in all grades (p < 0.05 in both cases), and this reduction was most evident in GIV (407- and 1,469-fold, respectively); however, the expression of the precursor forms pre-miR-128-1 and pre-miR-221 was higher in GIV (3.5-fold) than in GI. 24718706 2014
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. 21998595 2011
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
0.010 AlteredExpression disease BEFREE Immunohistochemical analysis of breast carcinomas showed significant correlation between STAT3 activation and elevated GIV expression. 23066027 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE Subsequent work has revealed that expression of the highly specialized C-terminus of GIV undergoes a bipartite dysregulation during oncogenesis-full length GIV with an intact C-terminus is expressed at levels ~20-50-fold above normal in highly invasive cancer cells and metastatic tumors, but its C-terminus is truncated by alternative splicing in poorly invasive cancer cells and non-invasive tumors. 21546796 2011
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 GeneticVariation group BEFREE The AA genotype and A allele carriers of the APE gene were more frequent in the transitional epithelial carcinoma group than in the adenocarcinoma group. 19414392 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 Biomarker disease BEFREE Girdin protein: A potential metastasis predictor associated with prognosis in lung cancer. 29456687 2018
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
0.100 Biomarker phenotype HPO
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 GeneticVariation group BEFREE A prospective study of polymorphisms of DNA repair genes XRCC1, XPD23 and APE/ref-1 and risk of stroke in Linxian, China. 17630376 2007
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.010 Biomarker disease BEFREE Clinico-pathological analysis reveals 83% of high-grade astrocytoma (GIII + GIV) and 30% of low-grade (GII) tissue samples which were detected with pDok2 expression. 27975172 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 AlteredExpression disease BEFREE Expression of GIV/Girdin, a metastasis-related protein, predicts patient survival in colon cancer. 20974669 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE We conclude that GIV-fl is a novel metastasis-related protein and an independent adverse prognosticator that may serve as a useful adjunct to traditional staging strategies in colorectal carcinoma. 20974669 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE The Girdin protein may be a potential new early liver metastasis biomarker of colorectal cancer. 22714912 2012
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
0.100 Biomarker disease HPO
CUI: C0009765
Disease: Conjunctivitis, Acute Hemorrhagic
Conjunctivitis, Acute Hemorrhagic
0.010 GeneticVariation disease BEFREE Interestingly, our isolates shared greatest homology with the GIV-C4 strains, not with the isolates that were responsible for the nationwide acute hemorrhagic conjunctivitis epidemic in China in 2007. 24475191 2014
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
0.100 Biomarker phenotype HPO
CUI: C0013604
Disease: Edema
Edema
0.100 Biomarker phenotype HPO