ZFYVE9, zinc finger FYVE-type containing 9, 9372

N. diseases: 59; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0004134
Disease: Ataxia
Ataxia
0.070 Biomarker phenotype BEFREE Nevertheless, only global intellectual abilities and executive functions significantly correlated with the overall severity of ataxia as assessed by the SARA scale, and impaired executive functions alone correlated with performance on several spatio-temporal gait analysis parameters. 31637587 2020
CUI: C0004134
Disease: Ataxia
Ataxia
0.070 Biomarker phenotype BEFREE Three paediatric neurologists independently assessed videotaped motor behaviour phenotypically and quantitatively (using the Scale for Assessment and Rating of Ataxia [SARA]). 31529709 2020
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.070 Biomarker phenotype BEFREE Nevertheless, only global intellectual abilities and executive functions significantly correlated with the overall severity of ataxia as assessed by the SARA scale, and impaired executive functions alone correlated with performance on several spatio-temporal gait analysis parameters. 31637587 2020
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.070 Biomarker phenotype BEFREE Three paediatric neurologists independently assessed videotaped motor behaviour phenotypically and quantitatively (using the Scale for Assessment and Rating of Ataxia [SARA]). 31529709 2020
CUI: C0004134
Disease: Ataxia
Ataxia
0.070 Biomarker phenotype BEFREE A cohort of 100 subjects (N = 18-21 in each SCA group, including premanifest mutation carriers; mean score on the Scale for the Assessment and Rating of Ataxia [SARA] <10 for all genotypes, and 22 matched controls) was scanned at 7 Tesla to obtain neurochemical profiles of the cerebellum and brainstem. 29575033 2018
CUI: C0004134
Disease: Ataxia
Ataxia
0.070 Biomarker phenotype BEFREE We determined the severity of ataxia clinically (SARA score) and the pattern of cerebellar involvement by neuroimaging (MRI volumetry and MR spectroscopy). 29427835 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.070 Biomarker phenotype BEFREE A cohort of 100 subjects (N = 18-21 in each SCA group, including premanifest mutation carriers; mean score on the Scale for the Assessment and Rating of Ataxia [SARA] <10 for all genotypes, and 22 matched controls) was scanned at 7 Tesla to obtain neurochemical profiles of the cerebellum and brainstem. 29575033 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.070 Biomarker phenotype BEFREE We determined the severity of ataxia clinically (SARA score) and the pattern of cerebellar involvement by neuroimaging (MRI volumetry and MR spectroscopy). 29427835 2018
CUI: C0004134
Disease: Ataxia
Ataxia
0.070 Biomarker phenotype BEFREE ICC values were similar in both EOA subgroups of 'core' and 'comorbid' ataxia (0.92-0.99; ICARS, SARA, and BARS). 27767206 2017
CUI: C0004134
Disease: Ataxia
Ataxia
0.070 AlteredExpression phenotype BEFREE Rater-blinded clinical assessment (Scale for the Assessment and Rating of Ataxia; SARA), individual goal-attainment scoring (GAS), and quantitative movement analysis were performed two weeks before training, immediately prior to training, and after training phases 1 and 2 (intra-individual control design). 28365204 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.070 Biomarker phenotype BEFREE ICC values were similar in both EOA subgroups of 'core' and 'comorbid' ataxia (0.92-0.99; ICARS, SARA, and BARS). 27767206 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.070 AlteredExpression phenotype BEFREE Rater-blinded clinical assessment (Scale for the Assessment and Rating of Ataxia; SARA), individual goal-attainment scoring (GAS), and quantitative movement analysis were performed two weeks before training, immediately prior to training, and after training phases 1 and 2 (intra-individual control design). 28365204 2017
CUI: C0004134
Disease: Ataxia
Ataxia
0.070 Biomarker phenotype BEFREE Clinical evaluation was done with the ataxia scales SARA and NESSCA. 22090366 2012
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.070 Biomarker phenotype BEFREE Clinical evaluation was done with the ataxia scales SARA and NESSCA. 22090366 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 Biomarker disease BEFREE Taken together, we demonstrated that Kindlin-1 promotes CRC progression by recruiting SARA and Smad3 to TβRI and thereby activates TGF-β/Smad3 signaling. 27776350 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 Biomarker disease BEFREE A novel serine protease SNC19 associated with human colorectal cancer. 11780337 2001
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 Biomarker disease BEFREE International comparisons show strong inverse protective associations with starch, NSP (fibre, non-starch polysaccharides) and vegetable intakes, and positive associations with meat consumption in large bowel cancer. 9103247 1997
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE Using the "Cancer Cohort," a national-based cohort (medico-administrative database), all women between the ages of 50 and 74 years and treated in 2014 for incident breast cancer were compared, according to whether their diagnosis was made following a mammogram performed within the framework of the SP (SP group) or outside it (NSP group). 31172693 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.020 Biomarker disease BEFREE In this study, we examined the expressions of SARA and level of p-Smad3 in brain tissues of TLE patients using immunohistochemistry and western blot to demonstrate that SARA activation in neurons is sufficient to facilitate TGF- β pathway in patients to regulate epilepsy. 30847724 2019
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
0.020 AlteredExpression disease BEFREE Our results indicate that upregulation of SARA and p-Smad3 in cortex neurons might be involved in the development of intractable temporal lobe epilepsy. 30847724 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE Using the "Cancer Cohort," a national-based cohort (medico-administrative database), all women between the ages of 50 and 74 years and treated in 2014 for incident breast cancer were compared, according to whether their diagnosis was made following a mammogram performed within the framework of the SP (SP group) or outside it (NSP group). 31172693 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE Last, a health services audit for cancer using the WHO SARA tool was undertaken. 29120823 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.020 AlteredExpression disease BEFREE The expression of SARA and downstream Phospho-Smad3 (p-Smad3) was examined in rats with pilocarpine induced epilepsy. 28035691 2017