Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 Biomarker disease BEFREE circACVR2A functions as a tumor suppressor to inhibit bladder cancer cell proliferation and metastasis through miR-626/EYA4 axis, suggesting that circACVR2A is a potential prognostic biomarker and therapeutic target for bladder cancer. 31101108 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 Biomarker disease BEFREE circACVR2A functions as a tumor suppressor to inhibit bladder cancer cell proliferation and metastasis through miR-626/EYA4 axis, suggesting that circACVR2A is a potential prognostic biomarker and therapeutic target for bladder cancer. 31101108 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE Furthermore, mechanism study exhibited that EYA4 could inhibit HCC angiogenesis and metastasis by inhibiting c-JUN/VEGFA pathway. 30957411 2019
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 Biomarker disease BEFREE circACVR2A functions as a tumor suppressor to inhibit bladder cancer cell proliferation and metastasis through miR-626/EYA4 axis, suggesting that circACVR2A is a potential prognostic biomarker and therapeutic target for bladder cancer. 31101108 2019
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome 		0.010 GeneticVariation disease BEFREE Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome. 31379922 2019
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.010 Biomarker disease BEFREE Even if we cannot exclude the contribution of other genes to the phenotype, EYA4 is a good candidate for OTFCS according to its pattern of expression, its sequence similarity to <i>EYA1</i>, and its involvement in PSEDN. 31379922 2019
CUI: C0017638
Disease: Glioma
Glioma 		0.010 AlteredExpression disease BEFREE Together, we demonstrate that EYA4 promotes cell proliferation by directly suppressing the expression of p27Kip1 in glioma. 30231237 2018
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 AlteredExpression disease BEFREE Similarly, EYA4 was aberrantly hypermethylated in ESCC tissues (78%, 39/50) and downregulation of EYA4 occurred in approximately 65% of primary ESCC at protein level where it was associated significantly with TNM stage and lymph node metastases. 29660222 2018
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.010 GeneticVariation disease BEFREE The EYA4 mutation was also found in the proband's grandfather and uncle, both showing clinical features of Waardenburg syndrome type 1. 29287889 2018
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss 		0.010 GeneticVariation disease BEFREE A new likely pathogenic mutation in the EYA4 gene (c.1154C > T; p.Ser385Leu) was identified in the proband and in her 42-year-old father with post-lingual non-syndromic profound sensorineural hearing loss. 29287889 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 PosttranslationalModification disease BEFREE By comparing the sixteen analyzed loci in lung AD tissues and AdjNL and non-tumor (NL) tissues, we found that, among the six genes identified with hypermethylation, the HOXA11, CDKN2A-EX2 and EYA4 genes showed highly promising DNA hypermethylation diagnostic markers in the lung AD tissues. 28380439 2017
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 Biomarker group BEFREE Taken together, we find evidence that EYA4 is a novel tumor suppressor in oral cancer, which becomes methylated and silenced at the premalignant stage and appears to be epigenetically regulated. 27015871 2016
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 Biomarker disease BEFREE Taken together, we find evidence that EYA4 is a novel tumor suppressor in oral cancer, which becomes methylated and silenced at the premalignant stage and appears to be epigenetically regulated. 27015871 2016
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		0.010 AlteredExpression disease BEFREE The associations between EYA4 expression and clinicopathologic features of ICC were analyzed. 27469137 2016
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		0.010 Biomarker disease BEFREE EYA4 functions as tumor suppressor gene and prognostic marker in pancreatic ductal adenocarcinoma through β-catenin/ID2 pathway. 27378242 2016
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 AlteredExpression disease BEFREE EYA4 expression in PDAC tissues was significantly reduced as compared with adjacent non-tumoral tissues. 27378242 2016
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		0.010 Biomarker disease BEFREE EYA4 gene functions as a prognostic marker and inhibits the growth of intrahepatic cholangiocarcinoma. 27469137 2016
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 Biomarker disease BEFREE This work shows a clear role for EYA4 as a putative TSG in NSCLC. 24096489 2014
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 Biomarker group BEFREE EYA4 is frequently and concomitantly deleted, hypermethylated and underexpressed in multiple independent lung tumor data sets, in both major NSCLC subtypes and in the earliest stages of lung cancer. 24096489 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 AlteredExpression disease BEFREE We found that decreased EYA4 expression is not only associated with poor survival in sporadic lung cancers but also that EYA4 single-nucleotide polymorphisms are associated with increased familial cancer risk, consistent with EYA4s proximity to the previously reported lung cancer susceptibility locus on 6q. 24096489 2014
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 GeneticVariation disease BEFREE We found that decreased EYA4 expression is not only associated with poor survival in sporadic lung cancers but also that EYA4 single-nucleotide polymorphisms are associated with increased familial cancer risk, consistent with EYA4s proximity to the previously reported lung cancer susceptibility locus on 6q. 24096489 2014
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 GeneticVariation disease BEFREE We found that decreased EYA4 expression is not only associated with poor survival in sporadic lung cancers but also that EYA4 single-nucleotide polymorphisms are associated with increased familial cancer risk, consistent with EYA4s proximity to the previously reported lung cancer susceptibility locus on 6q. 24096489 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 Biomarker disease BEFREE EYA4 is inactivated biallelically at a high frequency in sporadic lung cancer and is associated with familial lung cancer risk. 24096489 2014
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 GeneticVariation disease BEFREE De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation. 19576303 2010
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 GeneticVariation phenotype BEFREE The patient presented with microcephaly, short stature, patent ductus arteriosus, sensorineural hearing loss, mental retardation, reduced speech development, and abnormal behaviour.The deletion disrupts the gene EYA4. 19576303 2010