Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. 29805042 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.100 GeneticVariation phenotype GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.030 Biomarker disease BEFREE The impact of PLEKHA5 on proliferation and tumor growth was examined in vitro and in melanoma xenograft models, including brain-tropic melanomas (melanomas tending to disseminate to the brain). 31769872 2020
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.030 Biomarker disease BEFREE PLEKHA5 has previously been identified as a novel molecule implicated in melanoma brain metastasis, a disease that continues to portend a poor prognosis. 31769872 2020
CUI: C0025202
Disease: melanoma
melanoma 		0.030 AlteredExpression disease BEFREE PLEKHA5 expression in melanoma tumors was associated with early development of brain metastases. 25316811 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.030 Biomarker disease BEFREE PLEKHA5 functions as a regulator of brain metastasis in melanoma, and further investigation is warranted to explore the use of PLEKHA5 as a potential therapeutic target. 25779946 2015
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.030 Biomarker disease BEFREE At the protein level, by quantitative immunofluorescence, PLEKHA5 was associated with decreased brain metastasis-free survival. 25316811 2015
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.030 Biomarker disease BEFREE PLEKHA5 functions as a regulator of brain metastasis in melanoma, and further investigation is warranted to explore the use of PLEKHA5 as a potential therapeutic target. 25779946 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE PLEKHA5 knockdown significantly inhibited tumor growth, whereas its overexpression upregulated the growth of tumors, which was induced by cranial and subcutaneous inoculation of cells in nude mice. 31769872 2020
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE Extensive search of the literature revealed a potential key role of genes at the identified porcine loci in tumor invasion (<i>DST</i>, PLEKHA5, <i>CBY1</i>, <i>LIMK2</i> and <i>ETV5</i>) and immune response modulation (<i>ETV5</i>, <i>HERC3</i> and <i>DICER1</i>) of the progression phenotypes. 29963229 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE PLEKHA5 expression in melanoma tumors was associated with early development of brain metastases. 25316811 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE Knockdown of PLEKHA5 decreases the viability of A375Br cells, inhibits BBB transmigration and invasion in vitro. 25316811 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE The clinical relevance of PLEKHA5 dysregulation was further investigated in a cohort of matched cranial and extracranial melanoma metastases. 31769872 2020
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.010 Biomarker disease BEFREE PLEKHA5 regulates tumor growth in metastatic melanoma. 31769872 2020
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 Biomarker group BEFREE The clinical relevance of PLEKHA5 dysregulation was further investigated in a cohort of matched cranial and extracranial melanoma metastases. 31769872 2020
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.010 AlteredExpression group BEFREE In this study, we revealed that PEPP2 gene was highly expressed in myeloid leukemia cells and some other hematological malignancies. 26784514 2016