Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
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
CUI: C0687120
Disease: Nephronophthisis
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
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 Biomarker disease HPO
CUI: C0687120
Disease: Nephronophthisis
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
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 Biomarker disease GENOMICS_ENGLAND
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 Biomarker disease CTD_human
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 CausalMutation disease CLINVAR
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 GeneticVariation disease UNIPROT ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 23793029 2013
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
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
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		0.300 GermlineCausalMutation disease ORPHANET ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 23793029 2013
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile 		0.300 GermlineCausalMutation disease ORPHANET ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 23793029 2013
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		0.300 Biomarker disease CTD_human Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. 12089381 2002
CUI: C0022680
Disease: Polycystic Kidney Diseases
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
CUI: C0022680
Disease: Polycystic Kidney Diseases
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
CUI: C0022680
Disease: Polycystic Kidney Diseases
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
CUI: C0022680
Disease: Polycystic Kidney Diseases
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
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.320 Biomarker group HPO
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
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
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
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
CUI: C0887850
Disease: Polycystic Kidney, Type 1 Autosomal Dominant Disease
Polycystic Kidney, Type 1 Autosomal Dominant Disease 		0.300 Biomarker disease CTD_human Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. 12089381 2002
CUI: C3887499
Disease: Renal cyst
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
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C0037221
Disease: Situs Inversus
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