|
nervous system disorder
|
0.010 |
GeneticVariation
|
group |
BEFREE |
We recommend searching for an alternate explanation for disease in individuals with a neurological disorder found to have a small deletion involving KANK1.
|
30684669 |
2020 |
|
Developmental delay (disorder)
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
These data led us to conclude that small deletions involving KANK1 do not cause a highly-penetrant influence of large effect size and they are unlikely to contribute significantly to the aetiology of disease in patients with development delay, intellectual disability, autism or cerebral palsy.
|
30684669 |
2020 |
|
Invasive carcinoma of breast
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
These results supported that upregulation of KANK1 works as a tumour suppressor gene in BC and is associated with improved patients' outcomes.
|
31679074 |
2020 |
|
Carcinogenesis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Among them, three genes (PIK3CB, CAV2, and KANK1) are reportedly involved in tumorigenesis through the PI3K/Akt signaling pathway.
|
31642198 |
2019 |
|
Autism Spectrum Disorders
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
After evaluation of our case series and reconsideration of the literature, we propose that KANK1 aberrations do not frequently cause CP but cannot exclude that they represent a risk factor for ASD, especially when the coding region of the shorter, alternate KANK1 transcript (termed "transcript 4" in the UCSC Genome Browser) is impacted.
|
29729439 |
2019 |
|
Neurodevelopmental Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.
|
29729439 |
2019 |
|
Malignant neoplasm of stomach
|
0.010 |
Biomarker
|
disease |
BEFREE |
The results above indicate that upregulating the Kank1 gene can inhibit the progress of gastric cancer in vivo and in vitro and its mechanism is closely relevant to apoptosis and the tumor invasion and metastasis.
|
28731169 |
2017 |
|
neurofibroma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Consistently, knockdown of KANK1 in neurofibroma cells promoted cell growth.
|
28067315 |
2017 |
|
Stomach Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The results above indicate that upregulating the Kank1 gene can inhibit the progress of gastric cancer in vivo and in vitro and its mechanism is closely relevant to apoptosis and the tumor invasion and metastasis.
|
28731169 |
2017 |
|
Malignant Peripheral Nerve Sheath Tumor
|
0.010 |
Biomarker
|
disease |
BEFREE |
In this study, we report that restoration of KANK1 in human MPNST cells inhibits cell growth both in human cell culture and xenograft mice by increasing apoptosis.
|
28067315 |
2017 |
|
Nasopharyngeal carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our primary results revealed new function of Kank1 for NPC and implied that epigenetic regulation especially demethylation may have a potential value for NPC treatment.
|
25973051 |
2015 |
|
Malignant neoplasm of kidney
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
It was recently discovered that the Kank1 gene is a new cancer suppressor, and its expression is significantly downregulated or it is not expressed in kidney cancer, bladder cancer, prostate cancer, lung cancer and breast cancer.
|
24399197 |
2014 |
|
Primary malignant neoplasm
|
0.010 |
AlteredExpression
|
group |
BEFREE |
It was recently discovered that the Kank1 gene is a new cancer suppressor, and its expression is significantly downregulated or it is not expressed in kidney cancer, bladder cancer, prostate cancer, lung cancer and breast cancer.
|
24399197 |
2014 |
|
Renal carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
It was recently discovered that the Kank1 gene is a new cancer suppressor, and its expression is significantly downregulated or it is not expressed in kidney cancer, bladder cancer, prostate cancer, lung cancer and breast cancer.
|
24399197 |
2014 |
|
intracranial glioma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Thus, the human brain glioma apoptosis induced by upregulation of the Kank1 gene is closely relevant to the mitochondrial pathway.
|
24399197 |
2014 |
|
Congenital Cerebral Palsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3, has been associated with neurodevelopmental disease including congenital cerebral palsy, hypotonia, quadriplegia, and intellectual disability in a four-generation family.
|
23454270 |
2013 |
|
Nicotine Dependence
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, rs2241617 in ZCCHC14 and rs4742225 in KANK1 showed strong associations with ND (p=1.06×10(-7) and 4.81×10(-7), respectively) in the replication sample.
|
22377092 |
2012 |
|
Thrombocytosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
KANK1-PDGFRB is a unique example of a thrombocythemia-associated oncogene that does not signal via JAK2.
|
21685469 |
2011 |
|
Congenital Fibrosis of the Extraocular Muscles
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane.
|
19559006 |
2009 |
|
Polycythemia Vera
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Patients with PV who were homozygous or heterozygous for JAK2-V617F exhibited higher levels of expression of the 13 new markers, PRV1, and NF-E2 than patients without JAK2-V617F, whereas ANKRD15 was down-regulated in these patients.
|
16081684 |
2005 |
|
Familial (FPAH)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
|
16301218 |
2005 |
|
Malignant neoplasm of breast
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
High KANK1 protein expression was correlated with smaller tumour size and HER2 negativity, and better outcome in terms of longer breast cancer-specific survival [p = 0.013, HR 0.7, 95% CI 0.536-0.893] and time to distant metastasis [p = 0.033, HR 0.65, 95% CI 0.51-0.819].
|
31679074 |
2020 |
|
Neoplasm Metastasis
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
High KANK1 protein expression was correlated with smaller tumour size and HER2 negativity, and better outcome in terms of longer breast cancer-specific survival [p = 0.013, HR 0.7, 95% CI 0.536-0.893] and time to distant metastasis [p = 0.033, HR 0.65, 95% CI 0.51-0.819].
|
31679074 |
2020 |
|
Breast Carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
High KANK1 protein expression was correlated with smaller tumour size and HER2 negativity, and better outcome in terms of longer breast cancer-specific survival [p = 0.013, HR 0.7, 95% CI 0.536-0.893] and time to distant metastasis [p = 0.033, HR 0.65, 95% CI 0.51-0.819].
|
31679074 |
2020 |
|
Tumor Cell Invasion
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
In the METABRIC cohort, high expression of KANK1 mRNA was associated with characteristics of good prognosis including lower grade, absence of lymphovascular invasion and HER2 negativity (all; p < 0.001) and with better outcome [p = 0.006, Hazards ratio, (HR) 0.70, 95% CI 0.54-0.91].
|
31679074 |
2020 |