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 |
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 |
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 |
Cystic kidney
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Several SAM-domain proteins that bind each other are mutated in patients with cystic kidneys or laterality defects, including the Ankyrin (ANK) and SAM domain-containing proteins ANKS6 and ANKS3, and the RNA-binding protein Bicc1.
|
29290488 |
2018 |
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, Autosomal Dominant
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
The detection of the PKDr1 locus and associated QTL should accelerate research into the genetic causes of ADPKD.
|
9097967 |
1997 |
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 |
Episodic Kinesigenic Dyskinesia 1
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
These include Invs and Anks6, which are both excellent candidates for the modifier as mutations in these genes result in PKD and both genes are known to genetically and physically interact with Nek8.
|
27114383 |
2016 |
Episodic Kinesigenic Dyskinesia 1
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Comparative phenotype analysis in cy/+ rats and our Anks6(I747N) mice further showed that the two models display noticeably different PKD phenotypes and that there is a defective interaction between ANKS6 with ANKS3 in the rat and between ANKS6 and BICC1 (bicaudal C homolog 1) in the mouse.
|
26039630 |
2015 |
Hydrocephalus, Normal Pressure
|
0.010 |
Biomarker
|
disease |
BEFREE |
We recently observed that the ankyrin repeat protein Anks3 interacts with the NPH family member Anks6.
|
26188091 |
2015 |
Congenital cystic kidney disease
|
0.010 |
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 disease
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
Recent studies support the etiological role of the ANKS6 SAM domain in human cystic diseases, but its function in kidney remains unknown.
|
26039630 |
2015 |
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 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
NEPHRONOPHTHISIS 16
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
Cystic kidney
|
0.330 |
Biomarker
|
disease |
CTD_human |
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
|
23793029 |
2013 |
Polycystic Kidney, Autosomal Dominant
|
0.310 |
Biomarker
|
disease |
CTD_human |
Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases.
|
12089381 |
2002 |
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 |
Liver Cirrhosis
|
0.300 |
Biomarker
|
disease |
CTD_human |
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
|
23793029 |
2013 |
Situs Inversus
|
0.300 |
Biomarker
|
disease |
CTD_human |
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
|
23793029 |
2013 |
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 |