Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
0.120 CausalMutation phenotype CLINVAR
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.200 AlteredExpression phenotype BEFREE These data demonstrate that neuronal mTOR hyperactivity levels influence the severity of epilepsy and associated neuropathology in experimental TSC and FCD. 30700531 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.200 AlteredExpression phenotype BEFREE In the present study, we examine how neuron subset-specific deletion of Pten (NS-Pten) in mice, which presents with hyperactive mammalian target of rapamycin (mTOR) activity, affects the hippocampal protein levels of key neuropathological hallmarks of AD. 29965873 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.200 AlteredExpression phenotype BEFREE Although we currently know that the neoplasm may result from the hyperactivity of protein kinase B (PKB or Akt) or extracellular-regulated kinase (Erk), which upregulates mammalian target of rapamycin kinase (mTOR) and leads to translation of proteins responsible for cell cycle regulation, there are still many questions to be answered. 28803490 2018
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
0.130 AlteredExpression phenotype BEFREE Here we found that the expression of Satb2 was decreased following the neuronal hyperactivities. 29750936 2018
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
0.130 AlteredExpression phenotype BEFREE We found that IGFBP6 and SATB2 were significantly down-regulated in HIV-infected CEM*174 cells and 3 different cohorts of HIV/AIDS patients while their promoters were predominantly hyper-methylated compared with normal controls. 26039376 2015
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
0.120 AlteredExpression phenotype BEFREE Normal alpha-N-acetylglucosaminidase activity was observed in two obligate heterozygotes (the proband's father and her maternal grandmother), suggesting that in addition to the normal and defective alleles, a third, hyperactive allele is also present in this family. 1606713 1992
Entrez Id: 23135
Gene Symbol: KDM6B
KDM6B
0.120 AlteredExpression phenotype BEFREE Moreover, overexpressing JMJD3 through the transfection of pcDNA3.1-JMJD3 into healthy donor CD4+ T cells increased JMJD3 enrichment and decreased H3K27me3 enrichment within the ITGAL (CD11a) promoter and up-regulated CD11a expression, leading to T and B cell hyperactivity. 28430662 2017
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
0.110 AlteredExpression phenotype BEFREE We speculate that the duplication (6)(p22.2) and corresponding hyperactive level of SSADH activity may have negative consequences for GABA metabolism and the role of SSADH in other metabolic sequences. 21438145 2011
Entrez Id: 9439
Gene Symbol: MED23
MED23
0.110 AlteredExpression phenotype BEFREE By screening a large panel of human lung cancer cell lines with or without a Ras mutation, we found that Med23 RNAi specifically inhibits the proliferation and tumorigenicity of lung cancer cells with hyperactive Ras activity. 22988093 2012
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
0.100 AlteredExpression phenotype BEFREE Western blot analysis showed that these EGFR mutations enhanced cell growth and invasion via constitutive and hyperactive tyrosine phosphorylation and led to the activation of mitogen-activated protein kinase (MAPK), signal transducer and activator of transcription 3 (STAT3) and Akt pathways. 18193092 2008
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
0.100 AlteredExpression phenotype BEFREE Surprisingly, although CTLs express NLRP3, a canonical NLRP3 inflammasome is not required for normal human CTL activity, as CTLs from patients with hyperactive NLRP3 activity function normally. 30305631 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
0.100 AlteredExpression phenotype BEFREE Siblings discordant for the number of DAT1 high-risk alleles differed markedly in their levels of both hyperactive-impulsive and inattentive symptoms, such that the sibling with the higher number of high-risk alleles had much higher symptom levels. 9837830 1998
Entrez Id: 2908
Gene Symbol: NR3C1
NR3C1
0.100 AlteredExpression phenotype BEFREE It was also found that BS-I treatment reversed the increased level of plasma corticosterone and decreased mRNA and protein expressions of glucocorticoid receptor induced by CUMS exposure, indicating that hypothalamic-pituitary-adrenal (HPA) axis hyperactivity of CUMS-exposed mice was restored by BS-I treatment. 28758176 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
0.100 AlteredExpression phenotype BEFREE Collectively, these data reveal a novel function of TSC2 and Rheb in the regulation of EP3 expression and cell viability.<b>Implications:</b> Therapeutic targeting of an aberrant PGE2-EP3 signaling axis may have therapeutic benefit for TSC patients and for other mTOR-hyperactive neoplasms.<i></i>. 28710231 2017
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
0.100 AlteredExpression phenotype BEFREE Compared with the situation of optimal salinity for oyster growth, hypo-salinity mainly regulated expression of genes involved in FoxO and oxytocin signaling, tight junction and several immune pathways, while hyper-salinity altered gene expression implicated in amino acid metabolism, AMPK and PI3K-AKt signaling pathways, demonstrating the complexity and plasticity of transcriptomic expression underpinning oyster eurysalinity. 30416453 2018