WWC1, WW and C2 domain containing 1, 23286

N. diseases: 71; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 Biomarker disease BEFREE Upregulated microRNA miR-21 promotes the progression of lung adenocarcinoma through inhibition of KIBRA and the Hippo signaling pathway. 30372890 2018
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use
0.010 GeneticVariation disease BEFREE GABRA2 and KIBRA genotypes predict early relapse to substance use. 22129841 2012
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.020 GeneticVariation disease BEFREE The rs17070145-T variant of the WWC1 gene, coding for the KIBRA protein, has been associated with both increased episodic memory performance and lowered risk for late onset Alzheimer's disease, although the mechanism behind this protective effect has not been completely elucidated. 28380666 2017
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.020 Biomarker disease BEFREE Evidence for an association between KIBRA and late-onset Alzheimer's disease. 18789830 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE KIBRA single nucleotide polymorphism (rs17070145) has been linked to episodic memory performance as well as an increased risk of Alzheimer's disease and post-traumatic stress disorder (PTSD). 30134813 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Our data suggested that KIBRA might associate with younger AD patients (≤74 years) in a Northern Han Chinese population. 24190487 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Genetic variations of APOE and KIBRA have been associated with human memory and Alzheimer's disease. 27620974 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Our findings suggest that KIBRA is associated with both individual variation in normal episodic memory and predisposition to AD. 18789830 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE The association between KIBRA polymorphisms and the DMN and ECN should be further explored in a healthy older population and in patients with AD. 23266749 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE <b>Methods</b>: The AD animal model (APP/PS1 transgenic mice) and KIBRA knockout (KIBRA KO) mice were used to investigate pathophysiological changes of KIBRA <i>in vivo</i>. 31031595 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE The current study reveals that KIBRA (rs17070145) T allele (CT and TT genotypes) is associated with an increased risk (OR 2.89; p=0.03) for very-late-onset (after the age of 86 years) AD. 17707552 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE In functional studies, WW and C2 domain containing 1, aka KIBRA and TLN2 coexpressed in the temporal cortex brain tissue of AD subjects (β=0.17, 95% CI 0.04 to 0.30, p=0.01); modulated Tau toxicity in Drosophila eye experiments; colocalized in brain tissue cells, N2a neuroblastoma, and HeLa cell lines; and coimmunoprecipitated both in brain tissue and HEK293 cells. 30201328 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE The human KIBRA gene has been linked to human cognition through a lead intronic single-nucleotide polymorphism (SNP; rs17070145) that is associated with episodic memory performance and the risk to develop Alzheimer's disease. 23778582 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Our Cross-sectional investigation of 312 adults aged 50-89 years free of dementia included genotyping of the KIBRA rs17070145 gene and the assessment of episodic memory to Establish a Registry for Alzheimer's Disease (CERAD). 18194457 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE These findings suggest that healthy older people have additive and epistatic interactions of KIBRA and APOE gene variants, which modulate brain FNC and may partly elucidate their association with episodic memory performance and AD. 30715155 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Our results evidence a strong association between the KIBRA gene and episodic memory impairment in AD, but show no influence on AD in our Japanese cohort. 20881395 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE These results suggest a modest role for KIBRA as a cognition and AD risk gene, and also highlight the multifactorial complexity of its genetic associations. 21185624 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Association of KIBRA polymorphism with risk of Alzheimer's disease: Evidence based on 20 case-control studies. 28859866 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Functional studies suggest that KIBRA is a potential candidate gene for memory and Alzheimer's disease (AD) risk. 25800888 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Recent studies have implicated the involvement of a genetic variation in the KIBRA gene (T allele) in human memory in normal subjects and in the risk of developing Alzheimer's disease (AD). 18378080 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE The first genome-wide association study of human memory identified an association between a common T/C polymorphism of the KIBRA gene (rs17070145) and episodic memory performance in normal individuals; subsequent studies have implicated the same polymorphism in Alzheimer's disease. 20185150 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Alterations of Kibra-encoding gene WWC1 cause various neuronal disorders, including Alzheimer's disease and Tourette syndrome. 30784589 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE In conclusion, our results suggest that the effect of the WWC1 rs17070145 polymorphism on memory performance and Alzheimer's disease might be due to a differential regulation of the MAPK signaling, a key pathway involved in memory and learning processes. 28380666 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE There is a lack of consensus on the effect of KIBRA gene variants on cognitive performances in episodic memory and on the risk of AD. 30953258 2019
CUI: C0002622
Disease: Amnesia
Amnesia
0.010 Biomarker disease BEFREE Here we report abnormal acetylation of K274 and K281 on tau, identified in AD brains, promotes memory loss and disrupts synaptic plasticity by reducing postsynaptic KIdney/BRAin (KIBRA) protein, a memory-associated protein. 27041503 2016