SEPTIN14, septin 14, 346288

N. diseases: 8; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		0.500 FusionGene disease ORPHANET Systematic exploration of natural and synthetic flavonoids for the inhibition of Staphylococcus aureus biofilms. 24071942 2013
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		0.500 Biomarker disease CTD_human The integrated landscape of driver genomic alterations in glioblastoma. 23917401 2013
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		0.500 FusionGene disease ORPHANET The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. 24075187 2013
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.310 Biomarker disease CTD_human We also report recurrent translocations that fuse the coding sequence of EGFR to several partners, with EGFR-SEPT14 being the most frequent functional gene fusion in human glioblastoma. 23917401 2013
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.310 Biomarker disease BEFREE We also report recurrent translocations that fuse the coding sequence of EGFR to several partners, with EGFR-SEPT14 being the most frequent functional gene fusion in human glioblastoma. 23917401 2013
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.310 Biomarker disease CTD_human We also report recurrent translocations that fuse the coding sequence of EGFR to several partners, with EGFR-SEPT14 being the most frequent functional gene fusion in human glioblastoma. 23917401 2013
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.310 Biomarker disease BEFREE We also report recurrent translocations that fuse the coding sequence of EGFR to several partners, with EGFR-SEPT14 being the most frequent functional gene fusion in human glioblastoma. 23917401 2013
CUI: C0206726
Disease: gliosarcoma
gliosarcoma 		0.300 FusionGene disease ORPHANET Systematic exploration of natural and synthetic flavonoids for the inhibition of Staphylococcus aureus biofilms. 24071942 2013
CUI: C0206726
Disease: gliosarcoma
gliosarcoma 		0.300 FusionGene disease ORPHANET The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. 24075187 2013
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 Biomarker disease BEFREE These results suggest that SEPT14 may have a protective role in Parkinson's disease pathogenesis, yet more studies are necessary to validate these results. 27115672 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE We also report recurrent translocations that fuse the coding sequence of EGFR to several partners, with EGFR-SEPT14 being the most frequent functional gene fusion in human glioblastoma. 23917401 2013
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE We also report recurrent translocations that fuse the coding sequence of EGFR to several partners, with EGFR-SEPT14 being the most frequent functional gene fusion in human glioblastoma. 23917401 2013