|
Polycystic Kidney Diseases
|
0.320 |
Biomarker
|
group |
RGD |
Thus, we not only provide the first in vivo evidence for a causal link between the novel Anks6((p.R823W)) gene mutation and polycystic kidney disease, but we also developed a new transgenic rat model that will serve as an important resource for further exploration of the still unknown function of Anks6.
|
21119215 |
2010 |
|
Polycystic Kidney Diseases
|
0.320 |
Biomarker
|
group |
BEFREE |
Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat.
|
18434273 |
2008 |
|
Polycystic Kidney Diseases
|
0.320 |
Biomarker
|
group |
BEFREE |
The ankyrin repeat and sterile α motif (SAM) domain-containing six gene (Anks6) is a candidate for polycystic kidney disease (PKD).
|
26039630 |
2015 |
|
Polycystic Kidney Diseases
|
0.320 |
Biomarker
|
group |
RGD |
Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.
|
16207829 |
2005 |
|
Polycystic Kidney Diseases
|
0.320 |
Biomarker
|
group |
HPO |
|
|
|
|
Cystic Kidney Diseases
|
0.310 |
Biomarker
|
group |
CTD_human |
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
|
23793029 |
2013 |
|
Cystic Kidney Diseases
|
0.310 |
Biomarker
|
group |
BEFREE |
These variants are unlikely to account for PKD in these patients, yet the screening of other affected populations may provide information about the involvement of PKDR1 as a modifier gene in cystic kidney disease.
|
18434273 |
2008 |
|
Cardiovascular Abnormalities
|
0.300 |
Biomarker
|
group |
CTD_human |
We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus.
|
23793029 |
2013 |
|
Enlarged kidney
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.
|
28892062 |
2017 |
|
Renal cyst
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Evidence of renal cysts in these mice confirmed the crucial role of the SAM domain of ANKS6 in kidney function.
|
26039630 |
2015 |
|
NEPHRONOPHTHISIS 16
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
NEPHRONOPHTHISIS 16
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
NEPHRONOPHTHISIS 16
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
NEPHRONOPHTHISIS 16
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
|
23793029 |
2013 |
|
NEPHRONOPHTHISIS 16
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[Effect of traditional Chinese medicine and Western medicine research on medical records of traditional Chinese medicine].
|
2379302 |
1990 |
|
Nephronophthisis
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
Overall, these data indicate the importance of ANKS6 in human kidney development and suggest a mechanism by which mutations in ANKS6 may contribute to an NPHP-like phenotype in humans.
|
24610927 |
2014 |
|
Nephronophthisis
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient.
|
31678577 |
2020 |
|
Nephronophthisis
|
0.430 |
Biomarker
|
disease |
HPO |
|
|
|
|
Nephronophthisis
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus.
|
23793029 |
2013 |
|
Nephronophthisis
|
0.430 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Fibrosis, Liver
|
0.400 |
Biomarker
|
disease |
CTD_human |
We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus.
|
23793029 |
2013 |
|
Fibrosis, Liver
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
|
Cystic kidney
|
0.330 |
Biomarker
|
disease |
BEFREE |
These variants are unlikely to account for PKD in these patients, yet the screening of other affected populations may provide information about the involvement of PKDR1 as a modifier gene in cystic kidney disease.
|
18434273 |
2008 |
|
Cystic kidney
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
However, cystic kidneys in G2A and Inv mice maintained high levels of a non-phosphorylated form of ANKS6.
|
29395339 |
2018 |