|
Abnormality of brain morphology
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Alcoholic Intoxication, Chronic
|
0.310 |
Biomarker
|
disease |
PSYGENET |
In addition, several SNPs of these loci (ANAPC1, KANK1, NACM1, TCC12, SLCO3A1 and ZCCHC14) were associated with alcohol dependence.
|
22377092 |
2012 |
|
Alcoholic Intoxication, Chronic
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
In addition, several SNPs of these loci (ANAPC1, KANK1, NACM1, TCC12, SLCO3A1 and ZCCHC14) were associated with alcohol dependence.
|
22377092 |
2012 |
|
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 |
|
Basal Cell Cancer
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
|
31174203 |
2019 |
|
Basal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
|
31174203 |
2019 |
|
Basal Cell Neoplasm
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
|
31174203 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Breast Carcinoma
|
0.020 |
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 |
|
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 |
|
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 |
|
Carcinoma of lung
|
0.020 |
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 |
|
Carcinoma of lung
|
0.020 |
Biomarker
|
disease |
BEFREE |
However, there is no study concerning the specific role of Kank1 in the development and progression of lung cancer.
|
29956815 |
2018 |
|
Cerebral atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Cerebral Palsy
|
0.150 |
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 |
|
Cerebral Palsy
|
0.150 |
GeneticVariation
|
disease |
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 |
|
Cerebral Palsy
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have identified mutations in the actin-capping protein KANK1 and the adaptor protein-4 complex in forms of inherited cerebral palsy, suggesting a role for components of the dynamic cytoskeleton in the genesis of the disease.
|
23836506 |
2013 |
|
Cerebral Palsy
|
0.150 |
Biomarker
|
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 |
|
Cerebral Palsy
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
|
16301218 |
2005 |
|
Cerebral Palsy
|
0.150 |
Biomarker
|
disease |
HPO |
|
|
|
|
Cerebral Palsy, Spastic Quadriplegic, 1
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
|
16301218 |
2005 |
|
Cerebral Palsy, Spastic Quadriplegic, 2
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Cerebral Palsy, Spastic Quadriplegic, 2
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
|
16301218 |
2005 |
|
Cerebral ventriculomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Cholestasis
|
0.300 |
Biomarker
|
disease |
CTD_human |
"Integrative ""-Omics"" Analysis in Primary Human Hepatocytes Unravels Persistent Mechanisms of Cyclosporine A-Induced Cholestasis."
|
27989131 |
2016 |