Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270824
Disease: Visual seizure
Visual seizure
0.200 Biomarker disease RGD Early increase of apoptosis-linked gene-2 interacting protein X in areas of kainate-induced neurodegeneration. 14751282 2004
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.110 GeneticVariation disease BEFREE However, recently identified PD-linked genes, including DNAJC6 (auxilin), SYNJ1 (synaptojanin 1), and the PD risk gene SH3GL2 (endophilin A1), have also highlighted disruptions in synaptic vesicle endocytosis (SVE) as a significant contributor to disease pathogenesis. 30509690 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.110 GeneticVariation disease GWASCAT A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. 28892059 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.110 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.110 GeneticVariation disease GWASCAT Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. 22451204 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.110 GeneticVariation disease GWASDB Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. 22451204 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 AlteredExpression group BEFREE SH3GL2 (Src homology 3 (SH3) domain GRB2-like 2) is mainly expressed in the central nervous system and regarded as a tumour suppressor in human glioma. 28470949 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE SH3GL2 and MFN2 expression was detected in sera exosomes of normal healthy women, but barely detectable in the majority of the women with breast cancer exhibiting SH3GL2 and MFN2 loss in their primary tumors. 26888829 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE In accordance with higher frequency of methylation status in SH3GL2, statistical analysis showed methylation status of SH3GL2 was closely related to tumor TNM stage (P=0.003), but not related to age, tumor volume, tumor differentiation, lymph node metastasis and VIN grade. 26823912 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE SH3GL2 is mainly distributed in the central nervous system and considered to be a tumor suppressor in many tumors. 24736727 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE Loss of Sh3gl2 was associated with increasing tumor grade and with muscle invasion, which is a reliable predictor of metastatic disease and cancer-derived mortality. 23814487 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 AlteredExpression group BEFREE We found significantly low (p = 0.0015) SH3GL2 protein expression in 71 % (43/60) primary tumors. 22968441 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE The human Src homology 3 (SH3) domain GRB2-like 2 (SH3GL2) gene, a novel tumor suppressor gene in laryngeal squamous cell carcinoma (LSCC), induces apoptosis of tumor cells by regulating intra-cellular signal transduction networks. 20512084 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE To understand the association of candidate tumour suppressor genes SH3GL2, p16(INK4a), p14(ARF), and p15(INK4b) in the pathogenesis of head and neck squamous cell carcinoma (HNSCC), we studied the deletion, mutation, and methylation of these genes in 61 dysplastic lesions and 94 HNSCC samples. 19023882 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.040 Biomarker disease BEFREE Taken together, the present study suggests that the MEM/LINC00094/miR-224-5p (miR-497-5p)/Endophilin-1 axis plays a crucial role in the regulation of BBB permeability in AD microenvironment. 30801976 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.040 Biomarker disease BEFREE Thus, a potential role for endophilin 1 in Aβ‑induced postsynaptic dysfunction has been identified, indicating a possible direction for the prevention of postsynaptic dysfunction in cognitive impairment and suggesting that endophilin may be a potential target for the clinical treatment of AD. 31059028 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.040 AlteredExpression disease BEFREE Additionally, we previously showed that EP protein levels are elevated in AD patients and AD transgenic animal models. 30061577 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.040 Biomarker disease BEFREE Loss of SH3GL2 promotes the migration and invasion behaviours of glioblastoma cells through activating the STAT3/MMP2 signalling. 28470949 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.040 Biomarker disease BEFREE Loss of SH3GL2 promotes the migration and invasion behaviours of glioblastoma cells through activating the STAT3/MMP2 signalling. 28470949 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.040 AlteredExpression disease BEFREE We determined that RRM2 and COL3A1 were increased and directly correlated with glioma grade, while SH3GL2 and SNAP91 were decreased in GBM and inversely correlated with glioma grade. 27655637 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.040 AlteredExpression disease BEFREE We determined that RRM2 and COL3A1 were increased and directly correlated with glioma grade, while SH3GL2 and SNAP91 were decreased in GBM and inversely correlated with glioma grade. 27655637 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.040 AlteredExpression disease BEFREE MiR-330-mediated regulation of SH3GL2 expression enhances malignant behaviors of glioblastoma stem cells by activating ERK and PI3K/AKT signaling pathways. 24736727 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.040 AlteredExpression disease BEFREE MiR-330-mediated regulation of SH3GL2 expression enhances malignant behaviors of glioblastoma stem cells by activating ERK and PI3K/AKT signaling pathways. 24736727 2014
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.040 Biomarker disease BEFREE Collectively, these above-mentioned results suggest that miRNA-330 plays an oncogenic role in human glioblastoma by regulating SH3GL2 gene and might be a new therapeutic target of human glioblastoma. 23029364 2012
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.040 Biomarker disease BEFREE Collectively, these above-mentioned results suggest that miRNA-330 plays an oncogenic role in human glioblastoma by regulating SH3GL2 gene and might be a new therapeutic target of human glioblastoma. 23029364 2012